Q01196
PR
Gene name |
RUNX1 (AML1, CBFA2) |
Protein name |
Runt-related transcription factor 1 |
Names |
Acute myeloid leukemia 1 protein, Core-binding factor subunit alpha-2, CBF-alpha-2, Oncogene AML-1, Polyomavirus enhancer-binding protein 2 alpha B subunit, PEA2-alpha B, PEBP2-alpha B, SL3-3 enhancer factor 1 alpha B subunit, SL3/AKV core-binding factor alpha B subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:861 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
593 variants for Q01196
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1569084822 CA410204312 RCV000703143 |
8 | S>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812791 rs1569084817 CA410204309 |
8 | S>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2058005989 RCV001299153 |
9 | T>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203215 rs1204043122 CA410204280 |
12 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000818880 rs769087155 CA10014590 |
14 | T>M | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000543395 rs1555899881 CA410204228 |
16 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299743 rs2058005288 |
19 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561816 rs770530237 CA10014588 RCV001213519 |
20 | L>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001819791 CA10014583 RCV001064297 RCV002462310 rs752298116 |
22 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755793721 CA320642967 RCV001220776 |
22 | P>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555899861 CA410204095 RCV000639528 |
25 | M>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000500073 rs200431130 RCV000680392 CA10014581 COSM42095 RCV002256140 RCV000761084 RCV000231931 |
25 | M>K | Anaplastic ependymoma Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569084646 RCV000680393 RCV001197292 |
26 | S>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410204087 rs1601529435 RCV000794855 |
26 | S>G | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002276633 RCV001143085 rs1473182680 |
28 | A>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2058002908 RCV001257572 |
29 | L>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014578 COSM24756 RCV002277588 rs111527738 RCV000245382 RCV002256141 RCV000680395 RCV000226755 |
29 | L>S | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000817782 CA410204032 rs1266842690 RCV001816903 |
30 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410204028 RCV000791802 rs1266842690 |
30 | P>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569084451 RCV001290702 RCV000680396 |
31 | L>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254381316 RCV001297178 |
33 | A>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290712 rs765314703 CA10014576 RCV000556930 RCV001821538 RCV003126814 COSM24762 RCV002255444 |
33 | A>V | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000639515 RCV001294196 CA10014573 rs769213771 |
34 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886450546 CA320642855 RCV001343202 |
35 | D>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
rs937170536 CA320642849 RCV001042926 |
37 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1569084530 RCV000692523 RCV001376068 |
38 | A>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533883 CA10014569 RCV003159131 COSM24727 RCV001290711 rs777168865 |
42 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777168865 RCV001219241 CA320642805 RCV002293511 |
42 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555899813 RCV000549717 |
46 | S>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341123 rs1157495777 |
46 | S>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804342 rs1435268371 CA410203869 |
47 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2058001847 RCV001206257 |
48 | D>Y | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1487924415 RCV000699282 CA410203854 |
49 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878854467 CA10583885 RCV000229612 |
51 | M>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2058001205 TCGA novel RCV001065607 |
51 | M>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs878854467 RCV001339098 |
51 | M>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066864 rs1601529045 |
52 | V>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195650 RCV000680397 rs1569084388 |
53 | E>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814968 rs1313711063 CA410203825 |
53 | E>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1601528976 RCV001325151 |
54 | V>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015555 COSM24744 RCV000015556 CA123975 RCV000549373 rs121912500 |
58 | H>N | Transient myeloproliferative disorder of Down syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue Leukemia, acute myeloid, m0 subtype [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA320642689 rs56020428 RCV001299989 |
59 | P>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000527760 RCV000824697 RCV000503460 CA10014559 rs561166961 RCV000680398 |
60 | G>C | Castleman-Kojima disease Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs542902574 CA410203759 RCV000792096 CA10014558 RCV000823642 |
61 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000814775 CA410203767 rs1235407698 |
61 | E>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001217679 rs2057999447 |
63 | V>M | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2057999086 RCV001040732 |
68 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754168875 RCV000818068 CA10014555 |
69 | N>S | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1601528701 RCV000801548 |
70 | F>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569084170 RCV000680399 RCV001861880 RCV002499199 |
71 | L>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680401 CA410203565 rs1569084132 RCV002245584 |
75 | L>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824707 rs1569084116 RCV000680402 CA410203519 |
78 | H>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601528621 COSM41698 CA410203511 RCV000824708 |
78 | H>Q | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001270532 RCV002264772 rs2057998110 |
79 | W>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1180473 RCV000502317 CA410203508 RCV001349685 rs1555899735 RCV000824706 |
79 | W>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated Ensembl |
|
RCV002279704 RCV002549217 CA410203483 COSM36056 RCV001003541 RCV002264759 rs1569084106 |
80 | R>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001062338 rs2057998063 |
80 | R>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2057997947 RCV002264778 RCV001776184 RCV001309931 |
81 | C>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015551 RCV000680403 rs121912498 CA248613 |
83 | K>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA410203415 RCV000639531 rs1555899722 |
84 | T>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247761 CA10014550 rs759974526 |
84 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001078216 rs2057997486 |
85 | L>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264724 RCV000680405 rs1569084032 |
87 | I>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014523 rs768100078 RCV000526252 |
96 | D>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001241858 rs2057889754 |
96 | D>G | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014524 RCV000493659 rs373498347 RCV000795718 |
96 | D>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001067463 rs373498347 RCV002264761 CA10014525 |
96 | D>N | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001346752 rs2057889508 |
98 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2057889337 RCV001321520 |
99 | D>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410202714 RCV000541117 rs1555898641 |
104 | T>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs74315451 COSM1307763 CA248623 RCV000015554 |
107 | A>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1186716957 RCV002264774 RCV001270574 |
108 | G>S | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705057 rs1569079130 CA410202677 |
109 | N>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771823558 RCV001312003 RCV001071415 CA320638000 RCV000817304 CA10014520 |
111 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001243004 rs2057888324 |
111 | E>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685769 RCV002485591 rs1182543054 CA410202644 |
114 | S>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410202641 RCV000804289 rs1601516118 COSM24737 |
114 | S>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001195652 RCV000680410 rs1569079076 |
115 | A>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757288001 CA16616277 RCV000472326 |
118 | R>G | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs2057887317 RCV001220670 |
119 | N>Y | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015557 rs587776811 |
121 | T>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2057886829 RCV001321914 |
121 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM327304 CA10014513 rs752926959 RCV000639512 |
122 | A>T | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs763464804 RCV001325933 |
128 | V>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA248628 rs267607026 RCV000015558 |
129 | A>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229885 RCV002462849 rs2057885323 |
132 | N>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310005 rs2057885248 |
134 | L>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM24718 RCV000851801 RCV000434358 RCV001290699 rs1057519751 CA16602491 RCV001204199 |
135 | R>G | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001290705 rs1057519750 RCV000426735 RCV001039570 COSM96546 CA16602490 |
135 | R>K | large_intestine Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001290697 CA16602488 COSM42104 RCV001290696 RCV000441948 CA16602489 rs1057519749 RCV000433391 |
135 | R>S | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002264728 rs1569078862 RCV000697231 CA410202504 |
136 | F>C | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs993436723 CA320637836 RCV001343607 COSM1180474 |
138 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001270105 CA16616941 COSM36055 VAR_012128 rs1060499616 RCV000477937 |
139 | R>Q | Inherited bleeding disorder, platelet-type Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue FPDMM [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000680414 rs1569078799 RCV001195661 |
140 | S>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM211655 RCV002264732 rs1569078784 CA410202477 RCV000851806 RCV003153243 |
141 | G>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome haematopoietic_and_lymphoid_tissue Clonal Cytopenia of Undetermined Significance [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1569078784 COSM444416 RCV000824705 CA410202479 RCV000680415 |
141 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2057884016 RCV001250568 |
141 | G>V | Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001078212 rs2057883934 |
142 | R>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290692 rs1569078774 RCV000680416 |
143 | G>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306893 rs2057542528 |
147 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555894743 RCV000462686 |
150 | I>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824704 rs1569061931 RCV000680418 CA410208110 |
151 | T>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297847 rs1302205736 CA410208104 |
152 | V>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA248819 RCV000192486 rs797045927 RCV001815245 |
159 | V>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042409 rs1429953108 |
160 | A>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410208052 RCV001313193 rs1429953108 |
160 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000639519 CA410208042 rs1343295642 |
161 | T>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569061831 RCV000680421 RCV001376067 CA410208033 |
162 | Y>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569061812 COSM1413955 CA410208010 RCV000704866 |
166 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1569061793 RCV000692013 |
167 | K>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270495 RCV002280903 RCV002264771 rs2057541324 |
169 | T>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312236 rs2057541271 RCV002264779 |
170 | V>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM36059 RCV001078215 RCV001270576 RCV000852167 rs1569061786 CA410207972 |
171 | D>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2057541040 RCV001078217 |
172 | G>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301431 rs2057540949 |
173 | P>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519748 RCV000422235 CA16602487 RCV000824700 RCV001753852 COSM24771 |
174 | R>* | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000680425 VAR_012129 rs74315450 RCV000015550 CA248610 COSM24805 |
174 | R>Q | lung oesophagus Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue FPDMM; impaired phosphorylation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1569061768 COSM25124 CA410207940 RCV001374725 RCV001003539 RCV000799444 RCV000680426 |
177 | R>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001078214 RCV000680427 COSM24731 RCV001270615 CA410207938 RCV001003538 rs1569061762 |
177 | R>Q | lung large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. endometrium haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001315469 rs2057115881 |
179 | H>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002259071 RCV001045813 CA410207199 rs1229231012 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1601416036 RCV002264733 COSM96545 CA410207192 RCV000851832 |
181 | Q>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Storage pool disease of platelets haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10014390 rs777320434 RCV000558672 |
181 | Q>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000232873 rs747505757 COSM211652 CA10014388 |
187 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1312588693 RCV001205728 |
188 | K>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014387 RCV001221082 rs773743843 |
189 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1372473921 CA410207042 RCV002264727 RCV000696244 |
190 | G>A | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000694237 RCV000501810 RCV002264703 CA10014385 rs749004431 RCV002473028 RCV000765505 |
190 | G>R | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410207009 RCV000822483 rs1425437469 |
192 | L>F | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001308402 rs2057114781 |
192 | L>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2057114648 RCV001214573 |
194 | F>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014381 RCV002510941 COSM24766 RCV000639523 RCV002256430 rs780999703 |
196 | E>G | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854468 CA10583884 RCV001753693 RCV000233258 |
196 | E>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000703688 rs754894156 CA10014380 |
197 | R>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001233536 rs2057114262 |
198 | L>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656502 CA410206910 rs1555889984 |
200 | E>* | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824627 rs1601415787 CA410206900 |
202 | E>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229621 rs2057113892 |
203 | Q>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658824401 rs1569037241 RCV001364043 RCV001195664 RCV000680431 |
204 | L>M | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA410206881 rs1408720761 RCV001237014 |
204 | L>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10014376 RCV001049062 rs368711448 |
205 | R>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs765528082 RCV000473503 CA10014374 |
206 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001796972 RCV003223645 CA10014373 RCV000471855 RCV002255411 rs150042294 |
206 | R>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16616264 RCV000465106 rs1060502578 |
209 | M>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000551667 CA10014370 rs761086208 |
211 | V>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001195666 RCV000680433 rs1569037127 |
213 | P>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569037137 RCV000699468 CA410206833 |
213 | P>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1420171638 RCV001337989 |
216 | P>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248227 rs2057112574 |
217 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1393294594 CA410206799 RCV000707170 |
218 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2057112296 RCV001138667 |
219 | T>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315185 rs555366994 |
219 | T>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227103 COSM1030459 CA10014365 rs555366994 |
219 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001317506 rs555366994 |
219 | T>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497699 RCV001205751 rs2057112093 |
220 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014364 RCV000639530 rs747748983 |
221 | N>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1296210151 CA410206771 RCV001203631 COSM1413952 |
223 | R>C | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs771614642 RCV000230925 RCV002472976 COSM24764 RCV001255168 RCV001818594 CA10014362 |
223 | R>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2057111569 RCV001233271 |
228 | H>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477534 RCV000687930 rs746977462 CA10014361 |
228 | H>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000550271 rs1555889935 CA410206725 |
230 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2057111228 RCV001043633 |
233 | N>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689430 rs1569036981 CA410206706 |
233 | N>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601415426 COSM270868 RCV000852220 CA410206696 RCV002264741 |
235 | Q>* | oesophagus large_intestine Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Storage pool disease of platelets [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002264713 rs370315332 CA10014358 RCV003129891 RCV000528679 RCV000765504 |
236 | P>S | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10014357 rs765362075 RCV000821418 |
237 | Q>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2057110893 RCV001344575 |
237 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066416 rs2057110932 |
237 | Q>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1681955 CA10014356 RCV000462167 rs757570529 |
240 | M>I | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473220 CA16616520 rs1060502574 |
242 | D>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750826029 RCV000867656 CA10014290 |
244 | R>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001374726 RCV000680434 rs1569009004 |
247 | Q>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014288 rs370766377 RCV001068776 |
247 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000539000 CA10014287 RCV002282215 rs201164283 |
248 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2056577888 RCV001308632 |
248 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759227406 CA410150240 RCV001233521 |
251 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767251526 RCV000233794 CA10014286 |
251 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2056577465 RCV001298812 |
252 | W>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056577059 RCV001202518 |
255 | D>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762953695 CA10014282 RCV001063993 |
255 | D>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA320255629 rs1056623039 RCV000528343 |
256 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10014281 RCV002543037 RCV001295484 rs374341207 |
256 | Q>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000554462 rs1555885620 CA410150174 |
256 | Q>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10014280 RCV000697732 rs769966051 |
259 | Q>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410150112 CA248619 rs121912499 RCV000015553 RCV000851904 |
260 | Y>* | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
CA410150105 RCV000639517 rs1258447643 |
262 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001339101 rs371026644 CA10014278 |
264 | I>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000538641 rs771972670 |
268 | S>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320255546 RCV001207517 rs1054355302 |
268 | S>F | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000461356 CA10014273 rs758682659 |
273 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2056575944 RCV001307959 |
277 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202037007 CA10014271 RCV001225719 |
279 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV003114661 CA10014270 RCV000553567 rs139336358 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139336358 CA410149662 RCV001039511 |
279 | R>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003163193 CA10014269 RCV000695547 rs752288830 |
282 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1476051141 CA410149642 RCV001236579 |
283 | M>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs766264813 RCV001322690 |
286 | L>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264674 CA10014265 RCV000230331 rs766264813 |
286 | L>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2056575081 RCV001317947 |
287 | S>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639532 RCV002469229 RCV001816591 rs748122795 |
288 | A>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307915 rs2056574953 |
289 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10014264 rs762642960 RCV001223566 |
289 | E>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002256310 RCV001290709 CA10014261 rs545554349 RCV000456819 |
291 | S>A | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA320255462 RCV002264777 rs545554349 RCV001296221 |
291 | S>P | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2056574697 RCV001350601 |
292 | S>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM41699 CA410149580 rs1569008655 RCV000851916 RCV001078218 RCV000757724 |
293 | R>* | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10014260 rs761688033 COSM1413948 RCV001209470 |
293 | R>Q | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10014259 rs776703625 RCV001213220 RCV002255630 |
296 | T>A | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071399 rs1039736738 |
296 | T>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1039736738 RCV001819750 CA410148831 RCV001040920 |
296 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000806840 CA10014230 rs746531841 |
298 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA410148819 RCV001059102 rs1217420692 |
299 | D>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000705123 CA410148817 rs1217420692 RCV001195678 |
299 | D>Y | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000639514 rs915447247 RCV003162870 CA320251669 |
300 | L>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000530504 CA410148791 RCV001195679 rs1415582429 |
302 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs937059549 RCV001323258 |
304 | S>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056461235 RCV001234094 |
304 | S>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694695 rs757030094 CA10014225 |
305 | D>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001314639 rs200104203 CA10014224 |
306 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001195680 rs200104203 RCV000694287 CA410148693 |
306 | P>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001056313 rs2056460968 |
307 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197295 CA410148673 RCV000680379 rs1569002881 RCV002472312 |
308 | Q>* | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818589 RCV000233738 CA10014223 rs80314254 RCV002258842 |
308 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs928106783 RCV000805460 CA320251627 |
308 | Q>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756010562 CA10014222 RCV000639529 |
309 | F>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000462939 rs752745196 CA10014221 |
309 | F>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002264770 RCV001214618 rs2056460468 |
311 | A>T | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1273605678 RCV002255618 RCV001066565 CA410148597 |
311 | A>V | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1197877669 CA410148586 RCV001238515 |
312 | L>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001307319 rs2056460109 |
315 | I>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059247 CA10014219 rs759684186 |
317 | D>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774629580 RCV001058954 |
318 | P>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264726 CA10014218 RCV000692644 rs774629580 COSM96512 |
318 | P>R | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001204358 rs1234144396 CA410148478 |
318 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000793877 RCV001037580 rs1601333612 |
319 | R>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410148456 RCV003151818 rs1282562937 RCV000818126 |
319 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000797691 CA10014217 RCV000997828 rs370114565 |
320 | M>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814570 rs1601333587 TCGA novel CA410148443 |
320 | M>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs2056459478 RCV001236704 |
321 | H>Y | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206847 rs2056459331 |
323 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410148319 RCV000639516 rs1397164331 |
325 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs745561479 CA10014210 RCV001232316 |
330 | P>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs375989348 CA10014212 RCV000639527 |
330 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001239355 rs962671280 CA410148217 |
331 | T>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs962671280 RCV001039208 CA320251541 |
331 | T>M | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000811247 rs1601333461 CA410148208 |
332 | P>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA320251539 rs1017287894 RCV001303964 |
334 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA410148192 RCV000555513 rs1017287894 RCV002264706 |
334 | T>S | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201501 rs2056458462 |
335 | S>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264780 rs2056458051 RCV001312237 |
336 | G>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Myelodysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219226 rs2056458260 |
337 | I>F | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320251523 RCV000690463 rs752616540 |
338 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10014205 RCV001236054 rs752616540 |
338 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001070255 rs2056457761 |
341 | M>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1256464750 RCV001048934 RCV001344617 CA410148125 |
341 | M>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs755073984 CA10014200 RCV001322943 |
342 | S>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002264730 RCV000704111 CA410148093 rs1457932375 |
343 | A>V | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA320251476 RCV000529289 rs922736848 |
344 | M>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2056456863 RCV001064822 |
345 | G>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410148053 RCV001313100 rs1380391174 |
347 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001038740 rs2056456909 |
348 | T>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056456531 RCV001318793 |
357 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056456351 RCV001317316 |
358 | Y>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694400 rs1569002337 CA410147924 |
359 | P>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471305 rs975536871 |
360 | G>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410147917 RCV000680382 RCV000639522 rs1238015554 |
360 | G>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000824701 RCV000680383 rs1569002296 CA410147908 |
361 | S>* | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555884869 RCV000465997 |
362 | S>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1386664717 RCV001054104 |
364 | A>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1386664717 CA410147876 RCV001229818 |
364 | A>G | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2056455422 RCV001061883 |
367 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264744 RCV000805562 CA410147836 rs868527382 COSM1224397 RCV002260668 |
368 | P>L | large_intestine Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000423989 CA16609060 rs868527382 RCV000799291 RCV002264697 |
368 | P>R | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA410147824 rs1417292859 RCV001241112 |
369 | F>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1176713877 CA410147814 RCV001338075 |
370 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10014193 RCV000639533 RCV002264716 rs762292084 COSM26028 |
370 | Q>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs946348885 RCV001816590 RCV002256429 CA320251372 RCV000639518 |
372 | S>I | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001239228 rs946348885 CA410147804 |
372 | S>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA410147802 RCV000540310 rs1555884864 |
372 | S>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000639513 rs946348885 CA410147803 |
372 | S>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001299022 rs2056454601 |
373 | S>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290708 rs1569002159 RCV000680384 |
374 | P>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410147789 rs1569002142 RCV000703271 |
374 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1422877598 RCV000704405 CA410147792 |
374 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001345771 rs2056453893 |
380 | Y>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410147752 RCV002293509 rs1262717333 RCV001211679 RCV002264768 |
380 | Y>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1569002104 CA410147739 RCV000695254 |
382 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1214667759 RCV001234625 CA410147728 |
383 | S>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1569002077 RCV000680385 RCV001290700 |
384 | A>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322557 rs2056453065 |
384 | A>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212163 rs1256594190 CA410147727 |
384 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000821007 rs1233174774 CA410147722 COSM247148 |
384 | A>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000820785 rs1601332742 CA410147720 |
385 | G>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1397702481 RCV000680386 CA410147687 RCV002264722 RCV000761175 |
388 | Q>* | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410147676 RCV001063551 rs1376761452 |
388 | Q>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2056452722 RCV001308557 |
388 | Q>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300799 rs1357327999 CA410147637 |
391 | M>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000456503 rs202068364 CA10014190 |
391 | M>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs578042376 RCV002264698 CA16616511 RCV000456619 |
391 | M>V | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs2056452215 RCV001067167 |
392 | V>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1442265949 RCV001048791 CA410147614 |
393 | G>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001206477 CA410147609 rs1241678655 |
394 | G>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001290701 RCV000680387 rs1569001972 |
395 | E>missing | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480887 RCV001270553 rs2056451758 RCV002537734 |
395 | E>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs967317406 CA16616259 RCV000456884 |
395 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001347224 rs2056451816 |
395 | E>Q | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203068 rs1741971195 |
396 | R>C | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1205896319 CA410147569 RCV002256484 RCV002533669 RCV002264729 RCV000702883 |
396 | R>P | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1476276192 RCV001042971 CA410147550 |
397 | S>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001245800 RCV001270550 rs2056451534 RCV002256720 RCV001819950 |
397 | S>P | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056451263 RCV001198837 |
400 | R>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616506 RCV000458085 rs1060502577 |
400 | R>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555884845 RCV000466387 |
402 | L>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056450777 RCV001243339 |
404 | P>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313175 rs2056450734 |
404 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477899 CA16616940 rs1060499613 |
405 | C>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555884837 CA410147457 RCV000639526 |
407 | N>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748885850 CA10014187 RCV000639520 |
407 | N>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001340411 rs2056450088 |
411 | G>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777551786 CA10014186 RCV001038470 |
414 | L>P | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350817 rs777551786 CA410147373 |
414 | L>R | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001222008 rs1227184605 CA410147365 |
415 | L>F | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA410147256 RCV001052556 rs1399289174 |
420 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410147245 RCV000796410 rs1168253908 |
421 | N>Y | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001821023 rs751710767 CA10014181 RCV002257648 RCV000368260 |
425 | V>G | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs916623598 RCV001062383 |
425 | V>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs916623598 RCV000639525 CA320251280 |
425 | V>M | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1215912737 CA410147103 RCV001240835 |
429 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2056446750 RCV001037118 |
429 | E>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060493 rs572641102 |
430 | G>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061236 rs2056448645 |
433 | S>G | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056448611 RCV001327079 |
433 | S>N | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1196493708 RCV000797662 CA410146990 |
434 | N>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001235034 rs1601332087 |
434 | N>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805070 rs1601332036 CA410146940 |
436 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000469722 rs868387185 CA16616503 |
436 | P>S | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001049723 rs2056448032 |
437 | T>I | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410146870 RCV000824702 rs1447497062 |
438 | N>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM26026 rs762213305 RCV002258950 RCV001290714 RCV001000718 CA10014176 |
439 | M>L | Hereditary cancer-predisposing syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Hereditary thrombocytopenia and hematologic cancer predisposition syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410146847 RCV001046657 RCV002264760 rs1329096939 |
439 | M>T | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002511073 RCV001298844 rs762213305 RCV001819988 CA10014177 |
439 | M>V | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1442794209 RCV000557854 CA410146806 |
440 | A>E | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1034562071 CA320251220 RCV000794326 |
441 | P>L | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001324184 rs2056447396 |
444 | R>H | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680391 rs1555884790 RCV000639524 |
445 | L>missing | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536308 CA10014174 RCV002264708 RCV001821537 rs764689239 |
445 | L>P | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1569001446 CA410146659 RCV000690947 |
446 | E>A | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10652929 RCV000272599 rs886057047 |
447 | E>D | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2056446962 RCV001037101 |
447 | E>K | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2056446865 RCV001212589 |
448 | A>T | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410146616 rs1195996714 RCV001346572 |
449 | V>M | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410204352 rs1472759880 |
2 | R>C | No |
ClinGen gnomAD |
|
|
CA10014593 rs769876579 |
2 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320642989 rs1053814127 |
5 | V>I | No |
ClinGen Ensembl |
|
|
rs762090330 CA10014592 |
6 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001270489 rs2058006300 |
6 | D>N | No |
ClinVar dbSNP |
|
| TCGA novel | 9 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10014591 rs532264127 |
10 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410204294 rs1462077131 |
11 | R>C | No |
ClinGen gnomAD |
|
|
CA410204269 rs1339574833 |
13 | F>I | No |
ClinGen gnomAD |
|
|
CA410204250 rs769087155 |
14 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10014587 rs770530237 |
20 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs748720882 CA10014586 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755793721 CA10014584 |
22 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780977528 CA10014582 |
24 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA320642941 rs200431130 |
25 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10014580 rs751557379 |
26 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410204059 rs1184932175 |
28 | A>T | No |
ClinGen gnomAD |
|
|
CA410204050 rs1473182680 |
28 | A>V | No |
ClinGen gnomAD |
|
|
rs2058004321 RCV001312234 |
29 | L>missing | No |
ClinVar dbSNP |
|
|
rs1569084593 CA410204021 |
31 | L>P | No |
ClinGen Ensembl |
|
|
CA410204012 rs1601529342 |
32 | G>C | No |
ClinGen Ensembl |
|
|
rs1482518887 CA410204010 |
32 | G>D | No |
ClinGen TOPMed |
|
|
rs1254381316 CA410204005 |
33 | A>T | No |
ClinGen TOPMed |
|
|
CA410203989 rs769213771 |
34 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10014574 rs776929941 |
34 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1407760784 CA410203970 |
36 | A>T | No |
ClinGen gnomAD |
|
|
CA10014572 rs776111803 COSM341236 |
36 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1457506678 CA410203923 |
40 | L>R | No |
ClinGen gnomAD |
|
|
CA320642839 rs927005033 |
41 | A>V | No |
ClinGen Ensembl |
|
|
rs769235124 CA10014568 |
42 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA410203895 rs1411791016 |
43 | K>R | No |
ClinGen gnomAD |
|
|
rs1487924415 CA410203855 |
49 | R>G | No |
ClinGen gnomAD |
|
|
COSM24753 CA10014566 rs780816315 |
49 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA410203846 rs1209984367 |
50 | S>N | No |
ClinGen gnomAD |
|
|
rs1601529045 CA410203830 |
52 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 52 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410203834 rs1267412169 |
52 | V>M | No |
ClinGen gnomAD |
|
|
CA10014565 rs754818228 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1601528976 CA410203819 |
54 | V>G | No |
ClinGen Ensembl |
|
|
rs779860067 CA10014562 |
57 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs56251824 CA320642694 |
58 | H>Q | No |
ClinGen TOPMed |
|
|
CA320642675 rs918291722 |
61 | E>A | No |
ClinGen Ensembl |
|
|
CA410203769 rs1235407698 |
61 | E>K | No |
ClinGen TOPMed |
|
|
RCV001269762 rs2057999400 |
64 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 64 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410203733 rs1319107369 |
64 | R>H | No |
ClinGen gnomAD |
|
|
rs1569084229 CA410203738 |
64 | R>S | No |
ClinGen Ensembl |
|
|
CA410203714 rs757412228 |
66 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10014556 rs757412228 |
66 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA16608536 rs1057523598 RCV000424160 |
67 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
TCGA novel rs1432236291 CA410203652 |
70 | F>L | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1392873636 CA410203643 |
71 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247386323 CA410203539 |
77 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767874011 CA10014551 |
82 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1402769820 CA410203441 |
82 | N>S | No |
ClinGen gnomAD |
|
|
COSM36064 rs1569084082 CA410203419 COSM25127 RCV000680404 |
83 | K>N | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 95 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410202720 rs1569079205 |
103 | V>L | No |
ClinGen Ensembl |
|
|
CA410202688 rs1186716957 |
108 | G>R | No |
ClinGen gnomAD |
|
|
rs775206089 CA10014521 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410202671 rs1253720175 |
110 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979009101 COSM24752 CA320637976 |
117 | L>P | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1569079034 RCV000680411 COSM41826 CA410202611 |
119 | N>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA410202600 rs1264896287 |
121 | T>P | No |
ClinGen gnomAD |
|
|
CA410202596 rs752926959 COSM166785 |
122 | A>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10014511 rs755340590 |
124 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs781461238 CA10014512 |
124 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA320637875 rs913480708 |
125 | K>R | No |
ClinGen TOPMed |
|
|
rs113538299 CA320637867 |
126 | N>S | No |
ClinGen Ensembl |
|
|
rs766681045 CA10014509 |
127 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs751954304 COSM1413967 CA10014510 |
127 | Q>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10014507 rs750866158 |
128 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763464804 CA10014508 |
128 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760221080 CA10014505 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1601515773 CA410202493 |
138 | G>A | No |
ClinGen Ensembl |
|
|
COSM24769 CA410202490 rs759068561 |
139 | R>* | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
| TCGA novel | 145 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410208146 rs1281170216 |
145 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868726626 CA410208127 |
148 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 149 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773071163 CA10014479 |
155 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601470800 CA410208081 |
155 | N>T | No |
ClinGen Ensembl |
|
|
CA410208067 rs1366776979 |
157 | P>R | No |
ClinGen gnomAD |
|
|
rs1569061888 CA410208062 RCV000680420 |
158 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1343295642 CA410208041 |
161 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | Y>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000851831 rs1601470652 CA410208006 |
166 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1569061799 CA410207998 RCV000680423 |
167 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 167 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410207974 RCV000680424 rs1569061786 |
171 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA410207969 RCV000852169 rs1601470582 COSM24716 |
172 | G>R | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555890007 CA410207207 RCV000503595 |
180 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 181 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433717208 CA410207059 |
189 | P>S | No |
ClinGen gnomAD |
|
|
rs1372473921 CA410207044 |
190 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372339407 CA10014383 |
193 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410206965 rs1186881080 |
195 | S>F | No |
ClinGen gnomAD |
|
|
CA320603699 rs989834993 |
198 | L>F | No |
ClinGen TOPMed |
|
|
rs1278946545 CA410206919 |
199 | S>T | No |
ClinGen TOPMed |
|
|
CA10014379 rs751447523 |
201 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751447523 CA410206902 |
201 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10014372 rs777161188 |
207 | T>I | No |
ClinGen ExAC |
|
|
rs1480547134 CA410206862 |
208 | A>G | No |
ClinGen TOPMed |
|
|
CA10014371 rs200430800 |
209 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770402861 CA10014368 |
212 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164030524 CA410206813 |
215 | H>Q | No |
ClinGen gnomAD |
|
|
CA410206812 rs1420171638 |
216 | P>A | No |
ClinGen TOPMed |
|
|
COSM1264673 rs772889171 CA10014366 |
216 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM211651 rs1048311302 CA320603662 |
218 | P>L | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10014363 rs780862238 |
222 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1601415482 CA410206768 |
224 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 232 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758593641 CA10014359 |
235 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556287817 CA320255654 |
247 | Q>R | No |
ClinGen gnomAD |
|
|
CA410150285 rs1397817592 |
249 | S>A | No |
ClinGen gnomAD |
|
|
CA410150286 rs1397817592 |
249 | S>P | No |
ClinGen gnomAD |
|
|
CA10014285 rs759227406 |
251 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | S>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191218095 CA410150149 |
258 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs772337133 CA320255620 |
260 | Y>N | No |
ClinGen Ensembl |
|
|
CA10014279 rs748144554 |
263 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410150081 rs371026644 |
264 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410150074 rs1253108855 |
265 | A>P | No |
ClinGen gnomAD |
|
|
CA10014275 rs780399121 |
268 | S>P | No |
ClinGen ExAC gnomAD |
|
| rs771972670 | 268 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320255506 rs775128266 |
272 | A>T | No |
ClinGen Ensembl |
|
|
rs1413746315 CA410149686 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA410149666 rs1399443142 |
278 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780802526 CA10014268 |
282 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA410149635 rs1227176626 |
283 | M>I | No |
ClinGen TOPMed |
|
|
rs1418241825 CA410149632 |
284 | T>A | No |
ClinGen gnomAD |
|
|
rs751191137 CA10014266 |
285 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1252768244 CA410149621 |
286 | L>V | No |
ClinGen gnomAD |
|
|
CA410149610 rs1601347971 |
288 | A>T | No |
ClinGen Ensembl |
|
|
CA10014263 rs750414302 |
290 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410149588 rs1292992987 |
292 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320251671 rs1039736738 |
296 | T>R | No |
ClinGen gnomAD |
|
|
CA320251659 rs895580593 |
301 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10014228 rs757999827 |
301 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA410148803 rs895580593 |
301 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs895580593 CA410148800 |
301 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1358657401 CA410148782 |
302 | A>V | No |
ClinGen gnomAD |
|
|
rs937059549 CA320251648 |
304 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 305 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10014226 rs757030094 |
305 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410148699 rs1477060839 |
306 | P>S | No |
ClinGen gnomAD |
|
|
rs1216989122 CA410148678 |
307 | R>P | No |
ClinGen TOPMed |
|
|
CA320251605 rs969459005 |
309 | F>L | No |
ClinGen Ensembl |
|
|
rs1201741225 CA410148617 |
310 | P>H | No |
ClinGen TOPMed |
|
|
TCGA novel rs1439534438 |
311 | A>R | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410148460 rs1378698695 |
319 | R>C | No |
ClinGen gnomAD |
|
|
rs560102637 CA10014216 |
321 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 323 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410148317 rs1397164331 |
325 | A>S | No |
ClinGen gnomAD |
|
|
rs1166089094 CA410148294 |
326 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410148241 rs375989348 |
330 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745561479 CA10014211 |
330 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778511514 CA10014209 |
333 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410148197 rs1601333440 |
334 | T>P | No |
ClinGen Ensembl |
|
|
CA410148181 rs1456340235 |
335 | S>L | No |
ClinGen gnomAD |
|
|
rs777498866 CA10014206 |
336 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10014204 rs752616540 |
338 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410148151 rs1225645057 |
338 | G>V | No |
ClinGen gnomAD |
|
|
rs867474432 CA410148129 |
340 | G>A | No |
ClinGen TOPMed |
|
|
rs867474432 CA320251499 |
340 | G>D | No |
ClinGen TOPMed |
|
|
rs755073984 CA320251488 |
342 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA320251485 rs899544910 |
343 | A>S | No |
ClinGen Ensembl |
|
|
CA410148080 CA410148077 rs1348452375 |
344 | M>I | No |
ClinGen gnomAD |
|
|
rs1327042747 CA410148089 |
344 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410148048 rs1177469638 |
347 | A>V | No |
ClinGen TOPMed |
|
|
rs1254776818 CA410148028 |
349 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 350 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10014196 rs763216991 |
351 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA410147970 rs1372945573 |
355 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285485702 CA410147923 |
360 | G>S | No |
ClinGen gnomAD |
|
|
rs1601333051 RCV001003537 |
362 | S>missing | No |
ClinVar dbSNP |
|
|
rs1350744261 CA410147896 |
362 | S>L | No |
ClinGen gnomAD |
|
|
rs773725073 CA10014195 |
364 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773725073 CA410147882 |
364 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410147867 rs1290940209 |
365 | Q>R | No |
ClinGen gnomAD |
|
|
rs765629212 CA10014194 |
368 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs868527382 CA320251387 |
368 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1422877598 CA410147794 |
374 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001090978 rs2056453972 |
379 | Y>missing | No |
ClinVar dbSNP |
|
|
CA410147742 rs1601332825 |
381 | G>D | No |
ClinGen Ensembl |
|
|
rs1215489311 CA410147711 |
386 | S>C | No |
ClinGen gnomAD |
|
|
CA410147701 rs1277204124 |
387 | Y>C | No |
ClinGen gnomAD |
|
|
rs1340791959 CA410147704 |
387 | Y>H | No |
ClinGen gnomAD |
|
|
CA410147644 rs578042376 |
391 | M>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
RCV001270549 RCV003132370 rs2056452215 |
392 | V>G | No |
ClinVar dbSNP |
|
|
rs1477123742 CA410147620 |
393 | G>S | No |
ClinGen TOPMed |
|
|
CA320251355 rs1052718609 |
394 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 395 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001270586 rs2056451534 |
397 | S>A | No |
ClinVar dbSNP |
|
|
CA410147529 rs1199937558 |
399 | P>L | No |
ClinGen gnomAD |
|
|
rs1253570532 CA410147494 |
403 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410147476 rs1279963921 |
405 | C>Y | No |
ClinGen TOPMed |
|
|
rs1228065635 CA410147447 |
407 | N>K | No |
ClinGen gnomAD |
|
|
CA410147444 rs1216478489 |
408 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320251329 rs982238500 |
410 | T>S | No |
ClinGen Ensembl |
|
|
CA410147412 rs1340631548 |
411 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 413 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356974105 CA410147377 |
414 | L>M | No |
ClinGen gnomAD |
|
|
rs1376285640 CA410147342 |
416 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10014184 rs748095101 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1463272999 CA410147212 |
422 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs781167744 CA10014183 |
423 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410147178 rs1186988738 |
424 | D>A | No |
ClinGen gnomAD |
|
|
CA410147172 CA10014182 rs755054505 |
424 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA410147163 rs1256636876 |
426 | V>M | No |
ClinGen gnomAD |
|
|
rs572641102 CA10014180 |
430 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1055308 VAR_013177 CA320251257 |
431 | S>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1014566906 CA320251254 |
432 | H>P | No |
ClinGen TOPMed |
|
|
VAR_013178 CA320251251 rs1055309 |
433 | S>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1601332087 CA410146980 |
434 | N>T | No |
ClinGen Ensembl |
|
|
CA320251248 rs867153984 |
435 | S>Y | No |
ClinGen Ensembl |
|
|
rs868387185 CA320251242 |
436 | P>T | No |
ClinGen gnomAD |
|
|
CA410146914 rs1319410694 |
437 | T>P | No |
ClinGen gnomAD |
|
|
CA410146845 rs1329096939 |
439 | M>R | No |
ClinGen gnomAD |
|
|
rs1442794209 CA410146802 |
440 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410146724 rs1601331921 |
443 | A>V | No |
ClinGen Ensembl |
|
|
CA320251210 rs898914499 |
445 | L>V | No |
ClinGen TOPMed |
9 associated diseases with Q01196
[MIM: 601399]: Familial platelet disorder with associated myeloid malignancy (FPDMM)
Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. {ECO:0000269|PubMed:10508512}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. {ECO:0000269|PubMed:10508512}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| core-binding factor complex | A heterodimeric transcription factor complex that contains an alpha subunit (Runx1, Runx2 or Runx3 in human) that binds DNA and a non-DNA-binding beta subunit (CBFbeta), and binds to a consensus sequence 5'-YGYGGTY-3' found in several enhancers and promoters; the beta subunit enhances the DNA binding of the alpha subunit. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
14 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| transcription coactivator binding | Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle tissue regeneration | The regrowth of cardiac muscle tissue to repair injured or damaged muscle fibers in the postnatal stage. |
| chondrocyte differentiation | The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. |
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| myeloid cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. |
| myeloid leukocyte differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. |
| negative regulation of CD4-positive, alpha-beta T cell differentiation | Any process that stops, prevents, or reduces the frequency, rate, or extent of CD4-positive, alpha-beta T cell differentiation. |
| negative regulation of granulocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| peripheral nervous system neuron development | The process whose specific outcome is the progression of a neuron whose cell body is located in the peripheral nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of CD8-positive, alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of CD8-positive, alpha-beta T cell differentiation. |
| positive regulation of collagen biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of extracellular matrix organization | Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. |
| positive regulation of granulocyte differentiation | Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of cardiac muscle cell proliferation | Any process that modulates the frequency, rate or extent of cardiac muscle cell proliferation. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of connective tissue replacement | Any process that modulates the frequency, rate or extent of connective tissue replacement. |
| regulation of plasminogen activation | Any process that modulates the rate, frequency or extent of plasminogen activation. Plasminogen activation is the process in which plasminogen is processed to plasmin. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q13950 | RUNX2 | Runt-related transcription factor 2 | Homo sapiens (Human) | PR |
| Q13761 | RUNX3 | Runt-related transcription factor 3 | Homo sapiens (Human) | PR |
| Q08775 | Runx2 | Runt-related transcription factor 2 | Mus musculus (Mouse) | PR |
| Q03347 | Runx1 | Runt-related transcription factor 1 | Mus musculus (Mouse) | PR |
| Q63046 | Runx1 | Runt-related transcription factor 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRIPVDASTS | RRFTPPSTAL | SPGKMSEALP | LGAPDAGAAL | AGKLRSGDRS | MVEVLADHPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELVRTDSPNF | LCSVLPTHWR | CNKTLPIAFK | VVALGDVPDG | TLVTVMAGND | ENYSAELRNA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TAAMKNQVAR | FNDLRFVGRS | GRGKSFTLTI | TVFTNPPQVA | TYHRAIKITV | DGPREPRRHR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKLDDQTKPG | SLSFSERLSE | LEQLRRTAMR | VSPHHPAPTP | NPRASLNHST | AFNPQPQSQM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QDTRQIQPSP | PWSYDQSYQY | LGSIASPSVH | PATPISPGRA | SGMTTLSAEL | SSRLSTAPDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TAFSDPRQFP | ALPSISDPRM | HYPGAFTYSP | TPVTSGIGIG | MSAMGSATRY | HTYLPPPYPG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSQAQGGPFQ | ASSPSYHLYY | GASAGSYQFS | MVGGERSPPR | ILPPCTNAST | GSALLNPSLP |
| 430 | 440 | 450 | |||
| NQSDVVEAEG | SHSNSPTNMA | PSARLEEAVW | RPY |