rs61751374
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mutation for Stargardt disease |
| Make rs61751374(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 94043413 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751374 |
| dbSNP (classic) | rs61751374 |
| ClinGen | rs61751374 |
| ebi | rs61751374 |
| HLI | rs61751374 |
| Exac | rs61751374 |
| Gnomad | rs61751374 |
| Varsome | rs61751374 |
| LitVar | rs61751374 |
| Map | rs61751374 |
| PheGenI | rs61751374 |
| Biobank | rs61751374 |
| 1000 genomes | rs61751374 |
| hgdp | rs61751374 |
| ensembl | rs61751374 |
| geneview | rs61751374 |
| scholar | rs61751374 |
| rs61751374 | |
| pharmgkb | rs61751374 |
| gwascentral | rs61751374 |
| openSNP | rs61751374 |
| 23andMe | rs61751374 |
| SNPshot | rs61751374 |
| SNPdbe | rs61751374 |
| MSV3d | rs61751374 |
| GWAS Ctlg | rs61751374 |
| GMAF | 0.0009183 |
| Max Magnitude | 3 |
aka c.3113C>T (p.Ala1038Val or A1038V)
This variant was one of two considered most frequent in a study of 150 European families with Stargardt disease.[PMID 9973280
]
| ClinVar | |
|---|---|
| Risk | rs61751374(T;T) |
| Alt | rs61751374(T;T) |
| Reference | Rs61751374(C;C) |
| Significance | Pathogenic |
| Disease | Stargardt disease 1 Cone-rod dystrophy 3 not provided |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 Cone-rod dystrophy 3 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94508969G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008348.6, RCV000008350.3, RCV000008358.5, RCV000008359.4, RCV000085549.2, |
