rs61751392
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a mutation for Stargardt disease |
| (T;T) | 0 | common in clinvar |
| Make rs61751392(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 94063250 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751392 |
| dbSNP (classic) | rs61751392 |
| ClinGen | rs61751392 |
| ebi | rs61751392 |
| HLI | rs61751392 |
| Exac | rs61751392 |
| Gnomad | rs61751392 |
| Varsome | rs61751392 |
| LitVar | rs61751392 |
| Map | rs61751392 |
| PheGenI | rs61751392 |
| Biobank | rs61751392 |
| 1000 genomes | rs61751392 |
| hgdp | rs61751392 |
| ensembl | rs61751392 |
| geneview | rs61751392 |
| scholar | rs61751392 |
| rs61751392 | |
| pharmgkb | rs61751392 |
| gwascentral | rs61751392 |
| openSNP | rs61751392 |
| 23andMe | rs61751392 |
| SNPshot | rs61751392 |
| SNPdbe | rs61751392 |
| MSV3d | rs61751392 |
| GWAS Ctlg | rs61751392 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs61751392(C;C) |
| Alt | rs61751392(C;C) |
| Reference | Rs61751392(T;T) |
| Significance | Pathogenic |
| Disease | Stargardt disease 1 Cone-rod dystrophy 3 not provided not specified |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 Cone-rod dystrophy 3 not provided not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94528806A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008358.5, RCV000008359.4, RCV000085410.3, RCV000259117.1, RCV000408513.1, |
