Q9UBM7
PR
Gene name |
DHCR7 (D7SR) |
Protein name |
7-dehydrocholesterol reductase |
Names |
7-DHC reductase, Delta7-sterol reductase, Sterol Delta(7)-reductase, Sterol reductase SR-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1717 |
EC number |
1.3.1.21: With NAD(+) or NADP(+) as acceptor |
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
1 structures for Q9UBM7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBM7-F1 | Predicted | AlphaFoldDB |
576 variants for Q9UBM7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000169218 RCV001528227 rs121909767 |
1 | M>I | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856756 rs104886033 |
1 | M>L | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000224026 RCV000169384 rs104886033 RCV001267308 |
1 | M>V | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1127869 RCV000675039 VAR_067456 CA6162733 |
5 | S>L | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1057516977 RCV000411661 CA16041556 |
6 | Q>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001083978 RCV000514501 RCV002311826 rs115595829 RCV000508303 CA6162726 |
9 | I>F | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002433771 RCV001832013 CA243233 RCV000177130 rs139166382 |
10 | P>A | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1949390350 RCV001055938 |
15 | L>P | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162719 RCV000756011 rs772572550 RCV001274684 |
20 | N>D | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001554963 RCV000079659 RCV000380891 rs146867923 CA147253 RCV002313767 |
24 | A>S | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002535111 RCV000729262 rs146867923 RCV002499347 CA6162716 |
24 | A>T | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756564881 CA6162713 RCV000411258 |
28 | Q>* | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001245989 rs1949389544 |
30 | G>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162711 RCV000449598 rs200334114 RCV002374732 RCV000728279 |
30 | G>A | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001114198 rs367585401 RCV000681774 RCV001797701 CA6162709 |
31 | R>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000169596 rs750345068 CA274449 |
37 | W>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001263932 rs1467346010 |
39 | S>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706484 RCV002314020 RCV000307109 rs761265690 CA6162686 |
41 | A>V | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001252793 CA6162683 RCV002481808 rs200984695 RCV002264993 RCV002372729 |
43 | V>I | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome Microcephaly Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6162682 RCV000333892 RCV001239305 rs142897396 RCV002518021 |
44 | I>T | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_012717 CA221659 rs104886035 RCV000079646 RCV000178160 |
51 | P>S | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA6162674 COSM291009 rs779222334 RCV002388185 RCV001724129 RCV000674781 |
54 | V>I | large_intestine Smith-Lemli-Opitz syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002313765 rs143999854 RCV000509217 CA221662 RCV000681711 |
67 | A>T | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_023148 rs104886038 CA224280858 |
68 | L>P | SLOS [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002415645 CA233887 RCV000897661 RCV001487990 RCV000153144 rs144512551 |
70 | G>S | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706474 RCV001818435 RCV002415764 CA245187 rs370748173 RCV000178161 |
75 | I>F | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001672935 rs368473756 RCV000882330 CA6162660 RCV000728546 RCV002316093 |
76 | V>I | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373352413 RCV000672218 CA6162658 |
78 | G>R | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1949376985 RCV001110851 |
80 | A>V | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730759 CA6162656 RCV000277230 rs775735710 |
81 | R>W | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007185 rs80338853 RCV000079651 RCV000454251 CA221665 VAR_012718 |
93 | T>M | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome SLOS [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6162645 rs150563256 RCV002436151 RCV001770243 RCV000370999 |
97 | A>T | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000169020 rs104886039 CA273887 RCV000489856 |
98 | Q>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000756013 VAR_012719 rs104886041 CA6162643 RCV000668709 |
99 | L>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001263931 rs1949375897 |
100 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_023149 RCV001004377 CA6162641 rs104886040 |
107 | Q>H | Smith-Lemli-Opitz syndrome SLOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_023150 RCV000665858 rs121912195 RCV002442392 CA224280150 RCV001568654 |
109 | L>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
| VAR_023151 | 113 | S>C | SLOS [UniProt] | Yes | UniProt |
|
RCV001004376 rs747827699 |
119 | H>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA253936 rs28938174 RCV000274996 VAR_012720 RCV000007182 |
119 | H>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000624580 rs28938174 CA6162605 RCV001275367 RCV001756020 |
119 | H>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs143587828 RCV000297594 RCV000178841 CA246030 RCV002314649 |
126 | V>I | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001263930 rs1949357136 |
130 | Q>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162592 rs763333510 RCV000674190 |
133 | A>T | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201466849 CA221668 RCV000079653 RCV002354276 RCV000674435 |
134 | V>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_023152 | 138 | G>V | SLOS [UniProt] | Yes | UniProt |
|
rs373908315 CA6162562 RCV001056569 |
140 | V>M | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1393186135 CA381694696 RCV001830661 RCV000760785 |
143 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381694688 rs1555146475 RCV000674923 VAR_023153 |
145 | I>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV003222128 CA6162560 rs949177 RCV000779078 CA381694675 |
146 | N>K | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000421810 VAR_023154 CA6162559 RCV000665794 rs777425801 |
147 | G>D | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA253945 rs104894213 RCV000007186 |
151 | W>* | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; impact. Smith-Lemli-Opitz syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000020436 rs11555217 CA221671 RCV000079655 RCV000414879 RCV002336089 |
151 | W>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278600 rs1949346801 |
152 | L>F | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA274131 VAR_023155 rs143312232 RCV000169290 |
154 | T>M | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002312988 RCV000179381 RCV000790776 rs143312232 CA233884 |
154 | T>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6162556 RCV000724648 VAR_012721 rs753960624 RCV000578237 |
157 | L>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000079656 rs398123606 RCV002313766 RCV001274683 CA221674 |
162 | A>V | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1427321619 RCV001193583 |
167 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020437 RCV001818169 CA341824 rs80338855 VAR_023156 RCV002345251 |
169 | S>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Variant assessed as Somatic; 4.62e-05 impact. Inborn genetic diseases SLOS [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001797780 CA6162542 rs769218623 RCV000670698 |
174 | F>S | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000270483 CA10607075 RCV002522046 RCV002487296 rs886044698 |
174 | F>V | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368269558 RCV000665387 CA6162541 |
175 | D>N | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000674760 RCV003155278 CA381694481 rs1223603615 |
178 | I>F | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381694471 rs1555146436 RCV000672439 |
179 | P>L | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; impact. Smith-Lemli-Opitz syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1032242817 RCV003166024 CA224279792 RCV000761593 |
182 | W>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_023157 | 182 | W>C | SLOS [UniProt] | Yes | UniProt |
|
rs536394774 CA381694456 VAR_023158 |
182 | W>L | Smith-lemli-opitz syndrome (slos) SLOS [Ensembl, UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_023159 | 183 | C>Y | SLOS [UniProt] | Yes | UniProt |
|
RCV002312291 CA381694421 rs1565587998 RCV001825432 |
187 | L>P | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6162533 rs532635888 RCV003165972 RCV002535186 RCV000731039 |
191 | V>I | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_023160 | 198 | K>E | SLOS [UniProt] | Yes | UniProt |
|
rs542744675 COSM690092 RCV002318763 RCV001563939 CA6162523 COSM690091 |
206 | A>T | lung Smith-Lemli-Opitz syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001263646 rs1949322246 |
209 | C>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA224328070 RCV001278598 rs976105626 |
212 | T>A | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000674047 CA224328069 rs769583377 |
213 | G>D | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs749076525 RCV001572260 RCV000781323 CA6162500 |
217 | Y>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1949321790 RCV001214549 |
218 | N>K | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162499 RCV000668765 RCV002271516 RCV000493359 rs779896782 |
219 | Y>D | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200659923 CA6162498 RCV002498868 CA224328030 RCV000335696 RCV000597534 |
220 | M>L | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001285430 rs943223142 CA224328024 |
221 | M>R | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373121544 CA6162492 RCV000596201 RCV000671914 |
224 | E>K | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6162491 RCV002282323 RCV001267993 RCV000674773 rs775773057 |
228 | R>W | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001302490 rs267603172 CA6162487 |
229 | I>M | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004374 rs1591109892 CA381703470 |
232 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381703447 RCV000665754 rs1555146061 VAR_023161 |
235 | F>S | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002314895 RCV000513933 RCV002271517 rs148609143 RCV000763769 CA6162481 |
240 | N>S | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000389331 CA341827 VAR_023162 RCV002371778 RCV000020438 rs80338856 |
242 | R>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001529736 RCV000020439 rs80338857 VAR_023163 CA341830 |
242 | R>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs777248132 CA6162479 RCV000674586 |
243 | P>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA253939 RCV000007183 RCV001804715 VAR_012722 rs121909764 |
244 | G>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001110089 CA6162476 rs759967245 |
246 | V>I | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_012723 RCV000383910 CA10603223 RCV000670451 rs886041354 |
247 | A>V | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000007184 CA253942 VAR_012724 rs104894212 |
248 | W>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10606828 RCV000671730 RCV000339772 RCV001805002 rs886044494 |
248 | W>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_023164 | 255 | F>L | SLOS [UniProt] | Yes | UniProt |
|
RCV001051984 CA6162467 rs772639348 |
256 | A>S | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6162465 RCV000623313 RCV001775928 RCV000674169 rs770925697 |
257 | A>V | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001751671 RCV001343203 rs1406131499 |
261 | E>G | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667454 rs1555146023 |
268 | N>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516783 RCV000411261 |
268 | N>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381703233 RCV000672300 rs1555146021 |
270 | M>V | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059048 rs757697462 |
274 | N>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909766 RCV000007192 CA253949 |
280 | Y>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000180218 CA221680 rs398123607 RCV000079660 VAR_023165 RCV000624268 |
281 | V>M | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002442731 rs184297154 RCV000815482 CA224326709 |
284 | F>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA381703114 RCV000671381 rs1555145877 |
286 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000675015 CA6162413 rs766495775 |
287 | N>K | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000674146 RCV000593358 CA6162412 rs565893436 RCV001267309 |
288 | E>K | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002371766 RCV000412788 VAR_012725 rs121909765 RCV000007191 CA253946 |
289 | T>I | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs774187452 CA6162410 RCV000667799 |
290 | W>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555145874 RCV000667615 |
291 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_023166 | 297 | I>T | SLOS [UniProt] | Yes | UniProt |
|
CA381703032 rs769639753 RCV000668079 |
298 | C>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA381703011 rs1565586067 RCV001027946 RCV000730533 |
301 | H>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000020440 CA341833 RCV002371779 rs80338858 |
302 | F>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA275430 rs142808899 RCV002372105 RCV002252024 RCV000724095 RCV000180217 |
303 | G>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142808899 RCV000794082 CA6162404 |
303 | G>W | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000672544 rs1555145867 CA381702981 |
305 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002312420 rs370955781 CA381702952 |
310 | D>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_023167 | 311 | C>G | SLOS [UniProt] | Yes | UniProt |
| VAR_023168 | 311 | C>Y | SLOS [UniProt] | Yes | UniProt |
|
RCV000669792 rs1469918162 |
312 | V>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381702926 RCV000664491 rs1555145862 |
313 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041290 rs1555145862 |
313 | W>C | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949301977 RCV001278597 |
315 | P>L | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754992933 RCV000729308 RCV001862170 CA6162400 |
316 | Y>C | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555145859 RCV000674698 |
318 | Y>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048198 rs1177326550 CA381702899 |
318 | Y>N | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1362583959 RCV000674430 CA381702889 |
319 | T>A | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs766583874 RCV002386362 RCV000780208 RCV001274175 CA6162398 |
319 | T>M | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001278596 rs1949301409 |
320 | L>P | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525900 RCV001280755 VAR_023169 rs1173707321 CA381702573 |
324 | Y>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000007187 RCV001550331 VAR_012726 CA340609 rs80338859 |
326 | V>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1057516375 CA16041549 RCV000411396 |
327 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139724817 RCV001843524 RCV001193584 RCV000763768 CA6162342 RCV000727172 |
330 | V>M | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Hepatoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16041548 RCV000409015 rs1057516610 |
331 | Q>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000411723 rs1057516618 |
332 | L>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555145646 RCV000669414 |
335 | P>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667711 rs1555145633 |
337 | A>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027947 RCV000079638 rs72954276 CA221647 RCV000585931 RCV002313764 |
338 | V>M | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002314950 COSM1203498 RCV000551112 COSM1203497 rs148081697 CA6162332 |
340 | V>I | large_intestine Smith-Lemli-Opitz syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000666425 RCV002369797 CA381702390 RCV002510951 rs1317526744 |
341 | L>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199957106 RCV000670470 CA224324629 |
342 | L>P | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs1409887214 CA381702355 RCV001061648 |
344 | G>D | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_023170 | 344 | G>R | SLOS [UniProt] | Yes | UniProt |
|
RCV001278595 rs1949272319 |
350 | I>V | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000254828 CA253952 VAR_023171 RCV000007197 rs121909768 |
352 | R>Q | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000259783 RCV000007189 rs80338860 CA340612 RCV001252750 VAR_012727 |
352 | R>W | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Microcephaly SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs759720450 RCV000666554 |
353 | V>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_023172 | 353 | V>A | SLOS [UniProt] | Yes | UniProt |
|
RCV000409736 rs774291653 |
356 | H>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004589 rs1318653026 |
360 | L>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555145619 CA381702131 RCV000668758 |
360 | L>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410733 rs1057516517 |
361 | F>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162320 rs780088227 RCV000292578 |
361 | F>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002485579 RCV000681854 RCV001844225 VAR_023173 rs371302153 CA6162319 |
362 | R>C | Smith-Lemli-Opitz syndrome SLOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048197 rs371302153 |
362 | R>G | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6162316 RCV002316028 RCV000734205 RCV001825434 rs547012639 RCV003155295 |
363 | R>C | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002429760 RCV001114117 rs200539324 CA6162315 |
363 | R>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs567600444 RCV002314045 CA6162314 RCV000503164 RCV000731830 RCV000386515 |
364 | T>M | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555145614 CA381702049 RCV000666844 |
366 | G>V | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1356742 rs531038145 RCV002317798 COSM1356741 RCV000259933 CA6162313 RCV001828180 RCV003155146 |
367 | R>C | large_intestine Smith-Lemli-Opitz syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA381702024 RCV001252469 rs1565584984 |
369 | L>F | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1591107421 CA381702003 RCV001004588 |
371 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002321954 RCV000408382 CA6162305 RCV000725474 rs373306653 VAR_023174 |
380 | C>R | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| VAR_012728 | 380 | C>S | SLOS [UniProt] | Yes | UniProt |
|
RCV002453569 RCV000169472 VAR_023175 CA274343 RCV001171660 rs779709646 |
380 | C>Y | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000667423 CA381701822 rs1555145605 |
382 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750989470 RCV000734514 CA6162299 RCV002499377 |
385 | A>T | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6162297 RCV001112772 rs369837196 |
386 | D>N | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001830596 rs765707139 CA6162296 CA381701754 RCV000728200 |
387 | G>R | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6162294 RCV002332528 rs544442568 RCV003155296 RCV001830604 RCV000729705 |
390 | H>Y | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002312433 CA6162291 RCV000805883 rs773134475 VAR_023176 |
397 | S>L | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA16041545 RCV000411064 rs1057516493 |
400 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs61757582 RCV000723830 VAR_012729 RCV000007190 CA340615 RCV001266513 |
404 | R>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000674716 rs61757582 CA381701468 |
404 | R>G | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000668128 VAR_023177 rs61757582 CA381701470 |
404 | R>S | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_023178 | 405 | H>Y | SLOS [UniProt] | Yes | UniProt |
|
RCV002509629 rs1949268068 RCV001819896 RCV001207177 |
406 | F>L | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1481450955 RCV001286268 CA381701409 |
407 | N>K | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs770819693 CA6162285 RCV001004587 |
407 | N>Y | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000667912 VAR_023179 rs1046560765 CA224324187 |
408 | Y>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002491205 RCV000597434 rs757861528 CA6162282 RCV002368018 |
409 | V>I | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_023180 rs80338862 CA381701371 |
410 | G>R | Smith-lemli-opitz syndrome (slos) SLOS [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000020434 RCV000079640 rs80338862 VAR_012730 CA221650 RCV002316198 |
410 | G>S | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA6162281 rs372055524 RCV000666753 |
411 | D>N | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16619401 rs902179640 RCV000485125 RCV001275365 COSM1188342 COSM1188343 |
423 | G>S | lung Smith-Lemli-Opitz syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs368150818 RCV002054152 RCV000513082 CA248059 |
424 | G>S | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6162273 RCV002374522 VAR_052154 rs760242 RCV000316974 RCV000595632 |
425 | G>S | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000669736 CA381701125 rs1354718634 VAR_023181 |
426 | H>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001004586 CA6162269 rs140791666 |
430 | Y>* | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001278594 rs1565584679 |
432 | Y>F | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059047 rs1949265616 |
442 | H>R | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs535561852 VAR_023182 CA6162263 RCV000673491 |
443 | R>C | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome SLOS [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs781687341 RCV002473005 CA6162261 RCV000449623 |
443 | R>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766416330 RCV001352076 |
445 | L>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311810 CA6162258 RCV000576656 RCV000498273 RCV002244962 rs751604696 VAR_023183 |
446 | R>Q | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Wiedemann-Steiner syndrome Inborn genetic diseases SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
CA6162259 rs145043679 RCV000666265 RCV002530674 |
446 | R>W | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001004373 rs1591107062 |
448 | E>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA118513 RCV000790762 rs80338864 RCV000020435 VAR_016975 |
448 | E>K | Smith-lemli-opitz syndrome (slos) Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome SLOS; mild [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs80338864 RCV002222595 RCV001556238 CA381700721 VAR_023184 RCV000670693 |
448 | E>Q | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome SLOS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs886042362 RCV000725059 RCV000316051 |
450 | R>missing | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs542266962 CA224323879 RCV001556929 RCV002317913 RCV000674850 |
450 | R>H | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_023185 rs542266962 CA6162253 |
450 | R>L | SLOS [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000808556 CA915948241 RCV002381791 rs1591107040 RCV001560504 |
450 | R>L | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049144 rs1949264089 |
455 | Y>F | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730597 CA6162247 RCV002386299 rs201847193 RCV001835942 |
456 | G>S | Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000763767 RCV002379131 CA10605135 RCV000324086 rs886043122 |
457 | R>Q | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555145550 RCV000674614 CA381700586 |
459 | W>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000501047 RCV000731766 RCV002379181 RCV000356607 rs199506852 CA6162242 |
461 | R>C | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000671232 CA381700536 rs1453500228 |
462 | Y>* | Smith-Lemli-Opitz syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000079645 RCV000411557 CA221656 rs201270451 |
462 | Y>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6162239 rs760428437 RCV000255209 RCV000536496 |
466 | V>M | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148660993 RCV000665167 RCV001731857 CA6162237 |
469 | R>C | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001844232 RCV000732813 CA6162235 RCV001110781 rs201150384 |
469 | R>H | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000519844 rs201150384 CA6162236 RCV000670231 |
469 | R>P | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA381700454 RCV000762863 RCV000622787 rs1331331095 |
470 | L>Q | Smith-Lemli-Opitz syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381700381 RCV000674641 rs775034584 |
476 | F>K | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775034584 CA274163 RCV000169316 |
476 | F>Q | Smith-lemli-opitz syndrome (slos) Smith-Lemli-Opitz syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1393635021 CA381697219 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs1393635021 CA381697221 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA381697213 rs1157310044 |
3 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1127869 CA6162732 |
5 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205809191 CA381697149 |
8 | N>D | No |
ClinGen gnomAD |
|
|
CA6162728 rs756194690 |
8 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6162727 rs115595829 |
9 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224281292 rs916752312 |
11 | K>E | No |
ClinGen Ensembl |
|
|
CA381697078 rs1279200193 |
12 | A>V | No |
ClinGen gnomAD |
|
|
rs1440025932 CA381697069 |
13 | K>E | No |
ClinGen gnomAD |
|
|
CA6162724 rs764925295 |
13 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381696951 rs1240758105 |
16 | D>G | No |
ClinGen gnomAD |
|
|
CA381696955 rs1286169625 |
16 | D>H | No |
ClinGen TOPMed |
|
|
CA224281283 rs770947907 |
18 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770947907 CA6162721 |
18 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771795285 CA6162718 |
20 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1425357779 CA381696928 |
20 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381696906 rs1253314771 |
23 | T>S | No |
ClinGen gnomAD |
|
|
CA6162715 rs530687139 |
24 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381696903 rs530687139 |
24 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199815542 CA224281268 |
26 | Q>P | No |
ClinGen Ensembl |
|
|
rs780570846 CA6162714 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs372855459 CA10606954 RCV000336499 |
28 | Q>H | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs200334114 CA381696865 |
30 | G>D | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1222259994 CA381696867 |
30 | G>S | No |
ClinGen gnomAD |
|
|
rs370307688 CA6162708 RCV001821731 RCV000594191 |
31 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6162710 rs367585401 |
31 | R>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381696860 rs1565589940 |
32 | A>T | No |
ClinGen Ensembl |
|
|
CA224281249 rs780180501 |
32 | A>V | No |
ClinGen Ensembl |
|
|
rs750345068 CA224280909 |
37 | W>C | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA381696738 rs1193320383 |
37 | W>R | No |
ClinGen gnomAD |
|
|
rs1467346010 CA381696719 |
39 | S>L | No |
ClinGen gnomAD |
|
|
CA6162681 rs746175164 |
46 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365132949 CA381696674 |
47 | L>P | No |
ClinGen gnomAD |
|
|
CA224280901 rs140721259 |
47 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs104886034 CA224280894 |
50 | A>D | No |
ClinGen gnomAD |
|
|
rs747103823 CA381696659 |
50 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747103823 COSM931573 CA6162678 COSM931572 |
50 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs104886034 CA381696657 |
50 | A>V | No |
ClinGen gnomAD |
|
|
CA6162676 rs758757355 |
52 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186653102 CA381696643 |
53 | I>V | No |
ClinGen TOPMed |
|
|
CA6162672 rs374941029 |
55 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1178953604 CA381696617 |
56 | Y>* | No |
ClinGen TOPMed |
|
|
CA381696623 rs1480350925 |
56 | Y>N | No |
ClinGen gnomAD |
|
|
CA381696614 rs1231628274 |
57 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381696613 rs1231628274 |
57 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1207948894 CA381696612 |
57 | F>Y | No |
ClinGen gnomAD |
|
|
rs104886032 CA6162671 |
58 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA224280876 rs910542345 |
58 | I>N | No |
ClinGen Ensembl |
|
|
rs104886032 CA224280880 |
58 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA224280873 rs104886036 |
59 | M>R | No |
ClinGen Ensembl |
|
|
CA381696590 rs1232635305 |
60 | A>V | No |
ClinGen gnomAD |
|
|
CA6162670 rs761788547 |
61 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs104886037 CA6162669 |
62 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1372014207 CA381696573 |
63 | Q>* | No |
ClinGen gnomAD |
|
|
CA224280863 rs1044482 |
63 | Q>H | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143999854 CA381696529 |
67 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6162666 rs144512551 |
70 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1177091875 CA381696487 |
71 | P>S | No |
ClinGen gnomAD |
|
|
CA224280849 rs374874199 |
74 | D>A | No |
ClinGen ESP |
|
|
rs183441430 CA6162663 |
74 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6162664 rs773481689 |
74 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6162659 rs781010025 |
77 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381696388 rs1565589472 RCV000732495 |
78 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6162657 rs775735710 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752153214 CA6162655 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224280824 rs879015033 |
82 | L>F | No |
ClinGen Ensembl |
|
|
CA6162654 rs764847274 |
83 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6162652 rs776923495 |
84 | D>G | No |
ClinGen ExAC |
|
|
CA224280813 rs375997113 |
89 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs375997113 CA224280811 |
89 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs773862228 CA6162649 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1161391135 CA381696213 |
91 | P>L | No |
ClinGen gnomAD |
|
|
rs1410107835 CA381696218 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs541593878 CA381696141 |
94 | R>S | No |
ClinGen gnomAD |
|
|
rs1348232298 CA381696087 |
96 | A>V | No |
ClinGen TOPMed |
|
|
rs1292543464 CA381695951 |
101 | T>I | No |
ClinGen gnomAD |
|
|
rs1313146591 CA381695933 |
102 | L>F | No |
ClinGen gnomAD |
|
|
rs1342235041 CA381695942 |
102 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1340032271 CA381695904 |
104 | V>F | No |
ClinGen gnomAD |
|
|
CA381695884 rs1381454160 |
105 | T>N | No |
ClinGen gnomAD |
|
|
CA224280797 rs1001099838 |
106 | F>Y | No |
ClinGen Ensembl |
|
|
CA381695209 rs1591112239 |
108 | V>G | No |
ClinGen Ensembl |
|
|
rs1358554992 CA381695177 |
111 | Y>C | No |
ClinGen TOPMed |
|
|
rs770040020 CA6162609 |
112 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381695158 rs770040020 |
112 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170473492 CA381695119 |
115 | P>L | No |
ClinGen gnomAD |
|
|
CA224280139 rs981021248 |
115 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs981021248 CA381695127 |
115 | P>T | No |
ClinGen TOPMed gnomAD |
|
| VAR_074180 | 118 | C>R | No | UniProt | |
|
rs1180916134 CA381695042 |
119 | H>Y | No |
ClinGen gnomAD |
|
|
rs771866134 CA6162604 |
120 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381694968 rs1205519483 |
123 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | G>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6162600 rs748879289 |
124 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224280112 rs748879289 |
124 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287803816 CA381694896 |
128 | G>D | No |
ClinGen gnomAD |
|
|
CA224280104 rs138215017 |
129 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6162595 rs757703242 |
129 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs138215017 CA6162596 |
129 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751818759 CA6162594 |
132 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1414500492 CA381694830 |
132 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201466849 CA381694805 |
134 | V>M | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6162589 rs563056315 |
137 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405934579 CA381694727 |
139 | V>G | No |
ClinGen gnomAD |
|
|
CA6162563 rs769816544 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441002815 CA381694710 |
142 | K>E | No |
ClinGen gnomAD |
|
|
CA6162561 rs776246504 |
144 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381694674 COSM1676274 COSM1676273 rs1248898751 |
147 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA381694666 rs1401635626 |
148 | L>P | No |
ClinGen TOPMed |
|
|
CA224279872 rs11555217 |
151 | W>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779417085 CA6162557 |
154 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1343783336 CA381694608 |
158 | W>* | No |
ClinGen gnomAD |
|
|
rs766443353 CA6162555 |
158 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs756416682 CA6162554 |
159 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364850343 CA381694596 |
160 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767716202 CA6162552 |
162 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752494910 CA6162551 |
163 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6162550 rs774978807 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774978807 CA381694570 |
164 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs774978807 CA381694571 |
164 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381694549 rs1427321619 |
167 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs776334336 CA6162548 |
167 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA6162547 rs80338855 |
169 | S>W | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA224279823 rs150459687 |
170 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA224279831 rs150459687 |
170 | P>R | No |
ClinGen ESP TOPMed |
|
|
CA6162544 rs748562900 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6162543 rs779219548 |
173 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286409393 CA381694461 |
181 | L>P | No |
ClinGen gnomAD |
|
|
rs536394774 CA6162538 |
182 | W>* | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA224279790 rs891223964 |
184 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA381694436 rs1177172403 |
185 | N>S | No |
ClinGen gnomAD |
|
|
CA381694426 rs757519627 |
186 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472308699 CA381694429 |
186 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381694414 rs1184941602 |
188 | G>V | No |
ClinGen gnomAD |
|
|
CA6162535 rs752603560 |
190 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6162531 rs766299724 |
192 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6162532 rs753830704 |
192 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM294305 rs151170252 CA6162529 |
195 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 195 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224279754 rs142138656 |
196 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6162528 rs200474791 |
196 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381694341 rs1421641442 |
200 | Y>C | No |
ClinGen Ensembl |
|
|
rs1478289787 CA381694333 |
201 | F>C | No |
ClinGen gnomAD |
|
|
rs377727130 CA6162526 |
201 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6162527 rs774755673 |
201 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749591513 CA6162525 |
203 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1161545361 CA381694299 |
207 | R>G | No |
ClinGen gnomAD |
|
|
rs1236276448 CA381694280 |
209 | C>S | No |
ClinGen TOPMed |
|
|
CA381703977 rs1401502860 |
210 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381703737 rs1330568278 |
210 | K>R | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381703721 rs1221743276 |
212 | T>I | No |
ClinGen TOPMed |
|
|
CA381703724 rs976105626 |
212 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1389034393 CA381703707 |
214 | N>S | No |
ClinGen gnomAD |
|
|
COSM931566 COSM931567 rs773048017 CA224328068 |
215 | F>L | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1366802542 CA381703683 |
216 | F>V | No |
ClinGen gnomAD |
|
|
RCV000415359 CA16043463 rs779896782 |
219 | Y>H | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6162496 rs767377692 |
220 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6162497 rs200659923 |
220 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756795175 CA6162495 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751026224 CA6162494 |
222 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6162490 rs201556114 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs747133004 CA6162486 |
230 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772491341 CA6162484 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1404262569 CA381703472 |
232 | W>L | No |
ClinGen gnomAD |
|
|
CA6162483 rs748390752 |
232 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346625763 CA381703466 |
233 | F>L | No |
ClinGen gnomAD |
|
|
rs1329227520 CA381703395 |
243 | P>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen TOPMed |
|
CA6162474 rs767031102 |
247 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6162471 rs772294537 |
250 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761732160 CA6162470 |
251 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186843944 CA381703342 |
252 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381703340 rs774666247 |
252 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381703343 rs1186843944 |
252 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6162466 rs772639348 |
256 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770925697 CA381703312 |
257 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777617141 CA6162463 RCV000297920 |
260 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6162462 rs551260416 |
260 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777617141 CA381703295 |
260 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381703290 rs1406131499 |
261 | E>A | No |
ClinGen gnomAD |
|
|
CA6162461 rs752096930 |
261 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754553051 CA381703284 |
262 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754553051 CA6162459 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766838675 CA6162457 |
264 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1042442188 CA224327772 |
265 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 266 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750973099 CA6162455 |
268 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761064004 CA6162456 |
268 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353742919 CA381703229 |
270 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6162451 rs139787408 |
274 | N>K | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774275482 CA381703205 |
274 | N>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6162452 rs774275482 |
274 | N>T | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381703198 rs1354657059 |
275 | V>A | No |
ClinGen gnomAD |
|
|
rs775628929 CA6162449 |
275 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383142169 CA381703190 |
277 | Q>* | No |
ClinGen gnomAD |
|
|
rs1343520903 CA381703169 |
278 | A>V | No |
ClinGen gnomAD |
|
|
CA6162417 rs752010614 |
279 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148468879 CA381703157 |
280 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6162414 rs765481717 |
287 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA381703070 rs1591109039 |
293 | K>* | No |
ClinGen Ensembl |
|
|
CA381703059 rs1179380860 |
294 | T>I | No |
ClinGen gnomAD |
|
|
CA224326636 rs904279662 |
295 | I>T | No |
ClinGen gnomAD |
|
|
CA6162407 rs201574502 |
295 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381703044 RCV002248716 rs1085307926 RCV000489393 |
297 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1224039430 CA381703028 |
299 | H>R | No |
ClinGen gnomAD |
|
|
CA6162405 rs745498103 RCV000681855 |
299 | H>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1267495194 CA381703014 |
301 | H>N | No |
ClinGen TOPMed |
|
|
rs1591108969 CA381702984 |
305 | Y>S | No |
ClinGen Ensembl |
|
|
CA381702962 rs1392920633 |
308 | W>* | No |
ClinGen gnomAD |
|
|
CA381702954 rs1565586046 |
309 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 310 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6162401 rs370955781 |
310 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381702945 rs1378799308 |
311 | C>R | No |
ClinGen TOPMed |
|
|
CA381702894 rs1457166572 |
318 | Y>F | No |
ClinGen gnomAD |
|
|
CA381702888 rs766583874 |
319 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6162399 rs766583874 |
319 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA381702877 rs1255961569 |
321 | Q>L | No |
ClinGen gnomAD |
|
|
rs1333822866 CA381702555 |
326 | V>A | No |
ClinGen TOPMed |
|
|
CA6162345 rs775805851 |
328 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA381702540 rs1591107683 |
328 | H>P | No |
ClinGen Ensembl |
|
|
rs1157736816 CA381702537 |
328 | H>Q | No |
ClinGen gnomAD |
|
|
CA381702532 rs1468426794 |
329 | P>S | No |
ClinGen gnomAD |
|
|
rs139724817 CA6162343 |
330 | V>L | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1057516610 CA381702517 |
331 | Q>E | No |
ClinGen gnomAD |
|
|
rs757518371 CA6162341 |
334 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748020179 CA6162340 |
334 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748020179 CA224324727 |
334 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs757518371 CA381702484 |
334 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs77762671 CA6162337 |
335 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6162338 rs77762671 |
335 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381702452 rs75225632 |
336 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749913821 CA6162335 |
337 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA224324622 rs947679977 |
344 | G>S | No |
ClinGen Ensembl |
|
|
rs916217045 CA224324615 |
346 | V>E | No |
ClinGen TOPMed |
|
|
CA6162329 rs770174208 |
347 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA381702289 rs1394025873 |
348 | Y>C | No |
ClinGen TOPMed |
|
|
CA224324601 rs916168118 |
351 | F>L | No |
ClinGen Ensembl |
|
|
CA224324603 rs779980243 |
351 | F>S | No |
ClinGen Ensembl |
|
|
rs121909768 CA6162327 |
352 | R>L | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA381702230 rs1449289649 |
353 | V>M | No |
ClinGen gnomAD |
|
|
CA224324519 rs571923299 |
354 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1309736876 CA381702202 |
355 | N>D | No |
ClinGen TOPMed |
|
|
rs1591107508 CA381702194 |
355 | N>T | No |
ClinGen Ensembl |
|
|
rs768526200 CA6162322 |
357 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381702154 rs1243340265 |
358 | K>T | No |
ClinGen TOPMed |
|
|
rs1591107488 CA381702140 |
359 | D>A | No |
ClinGen Ensembl |
|
|
CA381702115 rs1591107472 |
361 | F>S | No |
ClinGen Ensembl |
|
|
CA6162317 rs142213147 COSM1250033 COSM1250032 |
362 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6162318 rs142213147 |
362 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381702107 rs371302153 |
362 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224324448 rs200539324 |
363 | R>L | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381702076 rs1085307925 RCV000489040 |
364 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs922646501 CA224324426 |
365 | D>G | No |
ClinGen Ensembl |
|
|
CA224324413 rs975439299 |
366 | G>R | No |
ClinGen Ensembl |
|
|
CA6162312 rs765908713 |
367 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381702015 rs1489954663 |
370 | I>L | No |
ClinGen gnomAD |
|
|
CA381702011 rs1371215955 |
370 | I>T | No |
ClinGen TOPMed |
|
|
CA381701992 rs1294449428 |
371 | W>* | No |
ClinGen gnomAD |
|
|
rs1467146122 CA381702006 |
371 | W>R | No |
ClinGen TOPMed |
|
|
rs760104729 CA6162311 |
372 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381701988 rs760104729 |
372 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381701989 rs760104729 |
372 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322012743 CA381701976 |
373 | R>G | No |
ClinGen gnomAD |
|
|
CA6162310 rs777218262 |
376 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771137757 CA6162309 |
376 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773505265 CA6162308 |
378 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381701894 rs1278791188 |
378 | I>V | No |
ClinGen gnomAD |
|
|
rs772162793 CA6162306 |
379 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6162303 rs769783115 |
380 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs779709646 CA6162304 |
380 | C>F | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1005868377 CA224324355 |
382 | Y>F | No |
ClinGen Ensembl |
|
|
CA6162302 rs745820609 |
383 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781043327 CA6162301 |
384 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs12577137 CA224324322 |
385 | A>G | No |
ClinGen gnomAD |
|
|
rs12577137 CA381701778 |
385 | A>V | No |
ClinGen gnomAD |
|
|
rs760241 CA224324303 CA381701757 |
386 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755325060 CA6162295 |
389 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs766943022 CA6162293 |
390 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381701678 rs1284886726 |
391 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6162292 rs760857590 |
396 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1011956734 CA224324272 |
396 | V>M | No |
ClinGen TOPMed |
|
|
CA381701551 rs1205529414 |
399 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs78523425 CA224324239 |
400 | W>G | No |
ClinGen Ensembl |
|
|
CA381701536 rs1057516493 |
400 | W>L | No |
ClinGen TOPMed |
|
|
CA381701526 rs1401116131 |
401 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200099137 CA6162288 |
402 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200099137 CA6162287 |
402 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224324238 rs969937612 |
403 | A>P | No |
ClinGen TOPMed |
|
|
CA381701500 rs969937612 |
403 | A>T | No |
ClinGen TOPMed |
|
|
CA6162286 rs776577137 |
405 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6162284 rs746591926 |
407 | N>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1219026826 CA381701398 |
408 | Y>C | No |
ClinGen gnomAD |
|
|
CA6162280 rs755426995 |
414 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6162279 rs754224400 |
415 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs894897580 CA224324098 |
417 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1053502314 CA224324092 |
418 | Y>C | No |
ClinGen TOPMed |
|
|
CA381701254 rs1565584753 |
419 | C>S | No |
ClinGen Ensembl |
|
|
rs750582708 CA6162276 |
422 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs368150818 CA6162274 |
424 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182384703 CA381701142 |
425 | G>D | No |
ClinGen gnomAD |
|
|
CA6162271 rs770971876 |
426 | H>Q | No |
ClinGen ExAC |
|
|
CA6162272 rs776401706 |
426 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381701098 rs1221791403 |
428 | L>V | No |
ClinGen TOPMed |
|
|
rs1449741699 CA381701068 |
429 | P>L | No |
ClinGen TOPMed |
|
|
CA381701071 rs1449741699 |
429 | P>R | No |
ClinGen TOPMed |
|
|
CA381701053 rs1485535452 |
430 | Y>F | No |
ClinGen gnomAD |
|
|
rs1217685553 CA381701042 |
431 | F>L | No |
ClinGen gnomAD |
|
|
CA381701018 rs1565584679 |
432 | Y>C | No |
ClinGen Ensembl |
|
|
CA6162267 rs747656720 |
432 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA381701004 rs1244124212 |
433 | I>V | No |
ClinGen gnomAD |
|
|
rs375187933 CA224324006 |
434 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1313621076 CA381700941 |
436 | M>V | No |
ClinGen gnomAD |
|
|
CA381700921 rs1382147285 |
437 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6162266 rs778750039 |
438 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1381722107 CA381700875 |
440 | L>V | No |
ClinGen TOPMed |
|
|
rs1439949765 CA381700852 |
441 | T>I | No |
ClinGen TOPMed |
|
|
rs749728888 CA6162264 |
441 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs781687341 CA6162262 |
443 | R>L | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781687341 CA6162260 |
443 | R>P | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1369678480 CA381700787 |
445 | L>F | No |
ClinGen gnomAD |
|
|
rs1369678480 CA381700790 |
445 | L>V | No |
ClinGen gnomAD |
|
|
rs139721775 CA6162256 |
447 | D>E | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381700751 rs1427783663 |
447 | D>H | No |
ClinGen gnomAD |
|
|
CA381700753 rs1427783663 |
447 | D>N | No |
ClinGen gnomAD |
|
|
rs758040709 CA6162255 |
449 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765154144 CA6162254 |
450 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6162251 rs761458977 |
451 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA381700680 rs1325144749 |
451 | C>Y | No |
ClinGen gnomAD |
|
|
rs140400648 CA6162250 |
452 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768489010 CA6162249 |
453 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1565584548 CA381700640 |
454 | K>R | No |
ClinGen Ensembl |
|
|
rs1565584548 CA381700638 |
454 | K>T | No |
ClinGen Ensembl |
|
|
CA6162246 rs746201510 |
456 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6162244 rs371873032 |
457 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1473523418 CA381700601 |
458 | D>Y | No |
ClinGen TOPMed |
|
|
CA6162243 rs777838196 |
460 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1197033218 CA381700554 |
461 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs566784842 CA224323740 |
464 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381700505 rs1253213550 |
465 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381700506 rs1253213550 |
465 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA381700501 rs1219768413 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6162238 rs750211727 |
467 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1245549808 CA381700479 |
468 | Y>H | No |
ClinGen TOPMed |
|
|
rs1331331095 CA381700451 |
470 | L>R | No |
ClinGen gnomAD |
|
|
rs766709599 CA6162232 |
471 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA381700422 rs1428527242 |
473 | G>R | No |
ClinGen gnomAD |
|
|
rs1173923264 CA381700409 |
474 | I>V | No |
ClinGen gnomAD |
|
|
CA381700383 rs1378025166 |
475 | F>L | No |
ClinGen gnomAD |
|
|
rs1478872904 CA381700390 |
475 | F>S | Smith-lemli-opitz syndrome (slos) [Ensembl] | No |
ClinGen gnomAD |
1 associated diseases with Q9UBM7
[MIM: 270400]: Smith-Lemli-Opitz syndrome (SLOS)
An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency
Without disease ID
- An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency
2 regional properties for Q9UBM7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sterol reductase, conserved site | 213 - 228 | IPR018083-1 |
| conserved_site | Sterol reductase, conserved site | 439 - 462 | IPR018083-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.1.21 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 7-dehydrocholesterol reductase activity | Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. |
| NADP binding | Binding to nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH. |
| oxidoreductase activity, acting on the CH-CH group of donors | Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. |
| sterol delta7 reductase activity | Catalysis of the reaction: 5-dehydroepisterol = 24-methylenecholesterol. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| brassinosteroid biosynthetic process | The chemical reactions and pathways resulting in the formation of brassinosteroids, any of a group of steroid derivatives that occur at very low concentrations in plant tissues and may have hormone-like effects. |
| cholesterol biosynthetic process | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol biosynthetic process via desmosterol | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate desmosterol. |
| cholesterol biosynthetic process via lathosterol | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. |
| regulation of cholesterol biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. |
| sterol biosynthetic process | The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9J5 | DHCR7 | 7-dehydrocholesterol reductase | Bos taurus (Bovine) | PR |
| P23913 | LBR | Delta(14)-sterol reductase LBR | Gallus gallus (Chicken) | PR |
| Q14739 | LBR | Delta(14)-sterol reductase LBR | Homo sapiens (Human) | PR |
| Q3U9G9 | Lbr | Delta(14)-sterol reductase LBR | Mus musculus (Mouse) | PR |
| Q6P4M0 | dhcr7 | 7-dehydrocholesterol reductase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAKSQPNIP | KAKSLDGVTN | DRTASQGQWG | RAWEVDWFSL | ASVIFLLLFA | PFIVYYFIMA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CDQYSCALTG | PVVDIVTGHA | RLSDIWAKTP | PITRKAAQLY | TLWVTFQVLL | YTSLPDFCHK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLPGYVGGIQ | EGAVTPAGVV | NKYQINGLQA | WLLTHLLWFA | NAHLLSWFSP | TIIFDNWIPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LWCANILGYA | VSTFAMVKGY | FFPTSARDCK | FTGNFFYNYM | MGIEFNPRIG | KWFDFKLFFN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRPGIVAWTL | INLSFAAKQR | ELHSHVTNAM | VLVNVLQAIY | VIDFFWNETW | YLKTIDICHD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HFGWYLGWGD | CVWLPYLYTL | QGLYLVYHPV | QLSTPHAVGV | LLLGLVGYYI | FRVANHQKDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FRRTDGRCLI | WGRKPKVIEC | SYTSADGQRH | HSKLLVSGFW | GVARHFNYVG | DLMGSLAYCL |
| 430 | 440 | 450 | 460 | 470 | |
| ACGGGHLLPY | FYIIYMAILL | THRCLRDEHR | CASKYGRDWE | RYTAAVPYRL | LPGIF |