rs61754278
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61754278(A;A) |
| Make rs61754278(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 102832610 |
| Gene | CYP17A1, CYP17A1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61754278 |
| dbSNP (classic) | rs61754278 |
| ClinGen | rs61754278 |
| ebi | rs61754278 |
| HLI | rs61754278 |
| Exac | rs61754278 |
| Gnomad | rs61754278 |
| Varsome | rs61754278 |
| LitVar | rs61754278 |
| Map | rs61754278 |
| PheGenI | rs61754278 |
| Biobank | rs61754278 |
| 1000 genomes | rs61754278 |
| hgdp | rs61754278 |
| ensembl | rs61754278 |
| geneview | rs61754278 |
| scholar | rs61754278 |
| rs61754278 | |
| pharmgkb | rs61754278 |
| gwascentral | rs61754278 |
| openSNP | rs61754278 |
| 23andMe | rs61754278 |
| SNPshot | rs61754278 |
| SNPdbe | rs61754278 |
| MSV3d | rs61754278 |
| GWAS Ctlg | rs61754278 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61754278(A;A) |
| Alt | rs61754278(A;A) |
| Reference | Rs61754278(G;G) |
| Significance | Pathogenic |
| Disease | Isolated 17 Deficiency of steroid 17-alpha-monooxygenase |
| Variation | info |
| Gene | CYP17A1 |
| CLNDBN | Isolated 17,20-lyase deficiency Deficiency of steroid 17-alpha-monooxygenase |
| Reversed | 1 |
| HGVS | NC_000010.10:g.104592367C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001860.4, RCV000185577.2, |
