Difference between revisions of "Rs41292677"
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OrientalBot (talk | contribs) (updated ClinVar data) |
OrientalBot (talk | contribs) (Set on chip ancestryv2) |
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|Gene_s=ABCA4 | |Gene_s=ABCA4 | ||
|StabilizedOrientation=plus | |StabilizedOrientation=plus | ||
| − | }}{{omim | + | }} |
| + | aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu) | ||
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| + | On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, [[rs61751406]], in a haplotype also listed in ClinVar. | ||
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| + | {{omim | ||
|id=601691 | |id=601691 | ||
|rsnum=41292677 | |rsnum=41292677 | ||
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{{on chip | 23andMe v2}} | {{on chip | 23andMe v2}} | ||
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{{on chip | 23andMe v4}} | {{on chip | 23andMe v4}} | ||
{{on chip | Ancestry v2}} | {{on chip | Ancestry v2}} | ||
| + | {{on chip | Ancestry v2d}} | ||
Latest revision as of 13:02, 6 December 2019
| 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 |
aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu)
On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, rs61751406, in a haplotype also listed in ClinVar.
| ClinVar | |
|---|---|
| Risk | Rs41292677(G;G) |
| Alt | Rs41292677(G;G) |
| Reference | Rs41292677(C;C) |
| Significance | Other |
| Disease | Stargardt disease 1 not provided not specified Cone-Rod Dystrophy Stargardt Disease Retinitis Pigmentosa Macular degeneration |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 not provided not specified Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Macular degeneration |
| Reversed | 0 |
| HGVS | NC_000001.10:g.94467548C>G |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008335.5, RCV000078671.7, RCV000259072.1, RCV000285333.1, RCV000340261.1, RCV000393715.1, RCV000393726.1, RCV000408516.1, |
