rs61752904
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs61752904(A;T) |
| Make rs61752904(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 68439033 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61752904 |
| dbSNP (classic) | rs61752904 |
| ClinGen | rs61752904 |
| ebi | rs61752904 |
| HLI | rs61752904 |
| Exac | rs61752904 |
| Gnomad | rs61752904 |
| Varsome | rs61752904 |
| LitVar | rs61752904 |
| Map | rs61752904 |
| PheGenI | rs61752904 |
| Biobank | rs61752904 |
| 1000 genomes | rs61752904 |
| hgdp | rs61752904 |
| ensembl | rs61752904 |
| geneview | rs61752904 |
| scholar | rs61752904 |
| rs61752904 | |
| pharmgkb | rs61752904 |
| gwascentral | rs61752904 |
| openSNP | rs61752904 |
| 23andMe | rs61752904 |
| SNPshot | rs61752904 |
| SNPdbe | rs61752904 |
| MSV3d | rs61752904 |
| GWAS Ctlg | rs61752904 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61752904(T;T) |
| Alt | rs61752904(T;T) |
| Reference | Rs61752904(A;A) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 2 not provided |
| Variation | info |
| Gene | RPE65 |
| CLNDBN | Leber congenital amaurosis 2 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.68904716T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000022753.18, RCV000085231.2, |
