rs61753043
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a mutation for Stargardt disease |
| Make rs61753043(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 94001000 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61753043 |
| dbSNP (classic) | rs61753043 |
| ClinGen | rs61753043 |
| ebi | rs61753043 |
| HLI | rs61753043 |
| Exac | rs61753043 |
| Gnomad | rs61753043 |
| Varsome | rs61753043 |
| LitVar | rs61753043 |
| Map | rs61753043 |
| PheGenI | rs61753043 |
| Biobank | rs61753043 |
| 1000 genomes | rs61753043 |
| hgdp | rs61753043 |
| ensembl | rs61753043 |
| geneview | rs61753043 |
| scholar | rs61753043 |
| rs61753043 | |
| pharmgkb | rs61753043 |
| gwascentral | rs61753043 |
| openSNP | rs61753043 |
| 23andMe | rs61753043 |
| SNPshot | rs61753043 |
| SNPdbe | rs61753043 |
| MSV3d | rs61753043 |
| GWAS Ctlg | rs61753043 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs61753043(G;G) |
| Alt | rs61753043(G;G) |
| Reference | Rs61753043(C;C) |
| Significance | Pathogenic |
| Disease | not provided Stargardt disease 1 |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | not provided Stargardt disease 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.94466556G>C |
| CLNSRC | |
| CLNACC | RCV000085816.1, RCV000408502.1, |
