rs374343397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a mutation for Stargardt disease |
| Make rs374343397(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 94019641 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374343397 |
| dbSNP (classic) | rs374343397 |
| ClinGen | rs374343397 |
| ebi | rs374343397 |
| HLI | rs374343397 |
| Exac | rs374343397 |
| Gnomad | rs374343397 |
| Varsome | rs374343397 |
| LitVar | rs374343397 |
| Map | rs374343397 |
| PheGenI | rs374343397 |
| Biobank | rs374343397 |
| 1000 genomes | rs374343397 |
| hgdp | rs374343397 |
| ensembl | rs374343397 |
| geneview | rs374343397 |
| scholar | rs374343397 |
| rs374343397 | |
| pharmgkb | rs374343397 |
| gwascentral | rs374343397 |
| openSNP | rs374343397 |
| 23andMe | rs374343397 |
| SNPshot | rs374343397 |
| SNPdbe | rs374343397 |
| MSV3d | rs374343397 |
| GWAS Ctlg | rs374343397 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs374343397(T;T) |
| Alt | rs374343397(T;T) |
| Reference | Rs374343397(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Stargardt disease 1 |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.94485197G>T |
| CLNSRC | |
| CLNACC | RCV000408584.1, |
