Difference between revisions of "Rs41292677"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|CLNDBN=Stargardt disease 1; not provided | |CLNDBN=Stargardt disease 1; not provided | ||
|Disease=Stargardt disease 1; not provided | |Disease=Stargardt disease 1; not provided | ||
| − | |CLNACC=RCV000008335.1; RCV000078671. | + | |CLNACC=RCV000008335.1; RCV000078671.5 |
|Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPhase3;LSD;OM | |Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPhase3;LSD;OM | ||
|CAF=0.9972; 0.002796 | |CAF=0.9972; 0.002796 | ||
Revision as of 06:19, 20 September 2015
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;G) | 3 | Carrier of a mutation for Stargardt disease |
| (G;G) | 6 | Stargardt disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 94001992 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41292677 |
| dbSNP (classic) | rs41292677 |
| ClinGen | rs41292677 |
| ebi | rs41292677 |
| HLI | rs41292677 |
| Exac | rs41292677 |
| Gnomad | rs41292677 |
| Varsome | rs41292677 |
| LitVar | rs41292677 |
| Map | rs41292677 |
| PheGenI | rs41292677 |
| Biobank | rs41292677 |
| 1000 genomes | rs41292677 |
| hgdp | rs41292677 |
| ensembl | rs41292677 |
| geneview | rs41292677 |
| scholar | rs41292677 |
| rs41292677 | |
| pharmgkb | rs41292677 |
| gwascentral | rs41292677 |
| openSNP | rs41292677 |
| 23andMe | rs41292677 |
| SNPshot | rs41292677 |
| SNPdbe | rs41292677 |
| MSV3d | rs41292677 |
| GWAS Ctlg | rs41292677 |
| GMAF | 0.003673 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs41292677(G;G) |
| Alt | Rs41292677(G;G) |
| Reference | Rs41292677(C;C) |
| Significance | Pathogenic |
| Disease | Stargardt disease 1 not provided |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 not provided |
| Reversed | 0 |
| HGVS | NC_000001.11:g.94001992C>G |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000008335.1, RCV000078671.5, |
| GET Evidence | |
|---|---|
| ABCA4-V2050L | |
| aa_change | Val2050Leu |
| aa_change_short | V2050L |
| impact | pathogenic |
| qualified_impact | High clinical importance, Uncertain pathogenic |
| overall_frequency | 0.00371816 |
| summary | Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner. |
