rs398123339
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a mutation for Stargardt disease |
| Make rs398123339(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 94113068 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123339 |
| dbSNP (classic) | rs398123339 |
| ClinGen | rs398123339 |
| ebi | rs398123339 |
| HLI | rs398123339 |
| Exac | rs398123339 |
| Gnomad | rs398123339 |
| Varsome | rs398123339 |
| LitVar | rs398123339 |
| Map | rs398123339 |
| PheGenI | rs398123339 |
| Biobank | rs398123339 |
| 1000 genomes | rs398123339 |
| hgdp | rs398123339 |
| ensembl | rs398123339 |
| geneview | rs398123339 |
| scholar | rs398123339 |
| rs398123339 | |
| pharmgkb | rs398123339 |
| gwascentral | rs398123339 |
| openSNP | rs398123339 |
| 23andMe | rs398123339 |
| SNPshot | rs398123339 |
| SNPdbe | rs398123339 |
| MSV3d | rs398123339 |
| GWAS Ctlg | rs398123339 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs398123339(G;G) |
| Alt | rs398123339(G;G) |
| Reference | Rs398123339(A;A) |
| Significance | Pathogenic |
| Disease | Stargardt disease 1 Central scotoma Macular degeneration Retinal atrophy Visual impairment |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 Central scotoma Macular degeneration Retinal atrophy Visual impairment |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94578624T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000078672.5, RCV000415227.1, |
