rs61750187
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs61750187(C;T) |
| Make rs61750187(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 8015781 |
| Gene | GUCY2D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750187 |
| dbSNP (classic) | rs61750187 |
| ClinGen | rs61750187 |
| ebi | rs61750187 |
| HLI | rs61750187 |
| Exac | rs61750187 |
| Gnomad | rs61750187 |
| Varsome | rs61750187 |
| LitVar | rs61750187 |
| Map | rs61750187 |
| PheGenI | rs61750187 |
| Biobank | rs61750187 |
| 1000 genomes | rs61750187 |
| hgdp | rs61750187 |
| ensembl | rs61750187 |
| geneview | rs61750187 |
| scholar | rs61750187 |
| rs61750187 | |
| pharmgkb | rs61750187 |
| gwascentral | rs61750187 |
| openSNP | rs61750187 |
| 23andMe | rs61750187 |
| SNPshot | rs61750187 |
| SNPdbe | rs61750187 |
| MSV3d | rs61750187 |
| GWAS Ctlg | rs61750187 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61750187(T;T) |
| Alt | rs61750187(T;T) |
| Reference | Rs61750187(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Leber congenital amaurosis 1 |
| Variation | info |
| Gene | GUCY2D |
| CLNDBN | not provided Leber congenital amaurosis 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7919099C>T |
| CLNSRC | |
| CLNACC | RCV000084879.1, RCV000174991.1, |
