rs61749665
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61749665(G;T) |
| Make rs61749665(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8003201 |
| Gene | GUCY2D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749665 |
| dbSNP (classic) | rs61749665 |
| ClinGen | rs61749665 |
| ebi | rs61749665 |
| HLI | rs61749665 |
| Exac | rs61749665 |
| Gnomad | rs61749665 |
| Varsome | rs61749665 |
| LitVar | rs61749665 |
| Map | rs61749665 |
| PheGenI | rs61749665 |
| Biobank | rs61749665 |
| 1000 genomes | rs61749665 |
| hgdp | rs61749665 |
| ensembl | rs61749665 |
| geneview | rs61749665 |
| scholar | rs61749665 |
| rs61749665 | |
| pharmgkb | rs61749665 |
| gwascentral | rs61749665 |
| openSNP | rs61749665 |
| 23andMe | rs61749665 |
| SNPshot | rs61749665 |
| SNPdbe | rs61749665 |
| MSV3d | rs61749665 |
| GWAS Ctlg | rs61749665 |
| GMAF | 0.3765 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61749665(T;T) |
| Alt | rs61749665(T;T) |
| Reference | Rs61749665(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Leber congenital amaurosis 1 not specified not provided |
| Variation | info |
| Gene | GUCY2D |
| CLNDBN | Leber congenital amaurosis 1 not specified not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7906519G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009947.1, RCV000078318.6, RCV000084835.2, |
