rs61751266
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs61751266(-;-) |
| Make rs61751266(-;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 14 |
| Position | 21312458 |
| Gene | RPGRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751266 |
| dbSNP (classic) | rs61751266 |
| ClinGen | rs61751266 |
| ebi | rs61751266 |
| HLI | rs61751266 |
| Exac | rs61751266 |
| Gnomad | rs61751266 |
| Varsome | rs61751266 |
| LitVar | rs61751266 |
| Map | rs61751266 |
| PheGenI | rs61751266 |
| Biobank | rs61751266 |
| 1000 genomes | rs61751266 |
| hgdp | rs61751266 |
| ensembl | rs61751266 |
| geneview | rs61751266 |
| scholar | rs61751266 |
| rs61751266 | |
| pharmgkb | rs61751266 |
| gwascentral | rs61751266 |
| openSNP | rs61751266 |
| 23andMe | rs61751266 |
| SNPshot | rs61751266 |
| SNPdbe | rs61751266 |
| MSV3d | rs61751266 |
| GWAS Ctlg | rs61751266 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61751266(-;-) |
| Alt | rs61751266(-;-) |
| Reference | Rs61751266(A;A) |
| Significance | Pathogenic |
| Disease | not provided Leber congenital amaurosis 6 |
| Variation | info |
| Gene | RPGRIP1 |
| CLNDBN | not provided Leber congenital amaurosis 6 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.21780617delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000086238.1, RCV000171128.2, |
