rs201471607
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a mutation for Stargardt disease |
| (T;T) | 0 | common in clinvar |
| Make rs201471607(C;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 94046943 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201471607 |
| dbSNP (classic) | rs201471607 |
| ClinGen | rs201471607 |
| ebi | rs201471607 |
| HLI | rs201471607 |
| Exac | rs201471607 |
| Gnomad | rs201471607 |
| Varsome | rs201471607 |
| LitVar | rs201471607 |
| Map | rs201471607 |
| PheGenI | rs201471607 |
| Biobank | rs201471607 |
| 1000 genomes | rs201471607 |
| hgdp | rs201471607 |
| ensembl | rs201471607 |
| geneview | rs201471607 |
| scholar | rs201471607 |
| rs201471607 | |
| pharmgkb | rs201471607 |
| gwascentral | rs201471607 |
| openSNP | rs201471607 |
| 23andMe | rs201471607 |
| SNPshot | rs201471607 |
| SNPdbe | rs201471607 |
| MSV3d | rs201471607 |
| GWAS Ctlg | rs201471607 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs201471607(C;C) |
| Alt | rs201471607(C;C) |
| Reference | Rs201471607(T;T) |
| Significance | Pathogenic |
| Disease | Stargardt disease 1 not provided |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.94512499T>C |
| CLNSRC | |
| CLNACC | RCV000408500.1, RCV000413621.1, |
