rs61749755
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs61749755(C;C) |
| Make rs61749755(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8009531 |
| Gene | GUCY2D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749755 |
| dbSNP (classic) | rs61749755 |
| ClinGen | rs61749755 |
| ebi | rs61749755 |
| HLI | rs61749755 |
| Exac | rs61749755 |
| Gnomad | rs61749755 |
| Varsome | rs61749755 |
| LitVar | rs61749755 |
| Map | rs61749755 |
| PheGenI | rs61749755 |
| Biobank | rs61749755 |
| 1000 genomes | rs61749755 |
| hgdp | rs61749755 |
| ensembl | rs61749755 |
| geneview | rs61749755 |
| scholar | rs61749755 |
| rs61749755 | |
| pharmgkb | rs61749755 |
| gwascentral | rs61749755 |
| openSNP | rs61749755 |
| 23andMe | rs61749755 |
| SNPshot | rs61749755 |
| SNPdbe | rs61749755 |
| MSV3d | rs61749755 |
| GWAS Ctlg | rs61749755 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61749755(C;C) |
| Alt | rs61749755(C;C) |
| Reference | Rs61749755(T;T) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 1 not provided |
| Variation | info |
| Gene | GUCY2D |
| CLNDBN | Leber congenital amaurosis 1 not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7912849T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009944.4, RCV000084839.1, |
