rs61751276
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61751276(A;A) |
| Make rs61751276(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 68449890 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751276 |
| dbSNP (classic) | rs61751276 |
| ClinGen | rs61751276 |
| ebi | rs61751276 |
| HLI | rs61751276 |
| Exac | rs61751276 |
| Gnomad | rs61751276 |
| Varsome | rs61751276 |
| LitVar | rs61751276 |
| Map | rs61751276 |
| PheGenI | rs61751276 |
| Biobank | rs61751276 |
| 1000 genomes | rs61751276 |
| hgdp | rs61751276 |
| ensembl | rs61751276 |
| geneview | rs61751276 |
| scholar | rs61751276 |
| rs61751276 | |
| pharmgkb | rs61751276 |
| gwascentral | rs61751276 |
| openSNP | rs61751276 |
| 23andMe | rs61751276 |
| SNPshot | rs61751276 |
| SNPdbe | rs61751276 |
| MSV3d | rs61751276 |
| GWAS Ctlg | rs61751276 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61751276(A;A) |
| Alt | rs61751276(A;A) |
| Reference | Rs61751276(G;G) |
| Significance | Pathogenic |
| Disease | not provided Leber congenital amaurosis 2 |
| Variation | info |
| Gene | RPE65 |
| CLNDBN | not provided Leber congenital amaurosis 2 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.68915573C>T |
| CLNSRC | |
| CLNACC | RCV000085149.1, RCV000314474.1, |
