rs62637015
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs62637015(G;T) |
| Make rs62637015(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 6425710 |
| Gene | AIPL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62637015 |
| dbSNP (classic) | rs62637015 |
| ClinGen | rs62637015 |
| ebi | rs62637015 |
| HLI | rs62637015 |
| Exac | rs62637015 |
| Gnomad | rs62637015 |
| Varsome | rs62637015 |
| LitVar | rs62637015 |
| Map | rs62637015 |
| PheGenI | rs62637015 |
| Biobank | rs62637015 |
| 1000 genomes | rs62637015 |
| hgdp | rs62637015 |
| ensembl | rs62637015 |
| geneview | rs62637015 |
| scholar | rs62637015 |
| rs62637015 | |
| pharmgkb | rs62637015 |
| gwascentral | rs62637015 |
| openSNP | rs62637015 |
| 23andMe | rs62637015 |
| SNPshot | rs62637015 |
| SNPdbe | rs62637015 |
| MSV3d | rs62637015 |
| GWAS Ctlg | rs62637015 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62637015(A;A) rs62637015(T;T) |
| Alt | rs62637015(A;A) rs62637015(T;T) |
| Reference | Rs62637015(G;G) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis |
| Variation | info |
| Gene | AIPL1 |
| CLNDBN | Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis |
| Reversed | 1 |
| HGVS | NC_000017.10:g.6329030C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000055942.1, RCV000086236.1, RCV000179479.1, RCV000394176.1, |
