rs200163795
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200163795(C;G) |
| Make rs200163795(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 124500592 |
| Gene | NR5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200163795 |
| dbSNP (classic) | rs200163795 |
| ClinGen | rs200163795 |
| ebi | rs200163795 |
| HLI | rs200163795 |
| Exac | rs200163795 |
| Gnomad | rs200163795 |
| Varsome | rs200163795 |
| LitVar | rs200163795 |
| Map | rs200163795 |
| PheGenI | rs200163795 |
| Biobank | rs200163795 |
| 1000 genomes | rs200163795 |
| hgdp | rs200163795 |
| ensembl | rs200163795 |
| geneview | rs200163795 |
| scholar | rs200163795 |
| rs200163795 | |
| pharmgkb | rs200163795 |
| gwascentral | rs200163795 |
| openSNP | rs200163795 |
| 23andMe | rs200163795 |
| SNPshot | rs200163795 |
| SNPdbe | rs200163795 |
| MSV3d | rs200163795 |
| GWAS Ctlg | rs200163795 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200163795(G;G) |
| Alt | rs200163795(G;G) |
| Reference | Rs200163795(C;C) |
| Significance | Pathogenic |
| Disease | Premature ovarian failure 7 Spermatogenic failure 8 |
| Variation | info |
| Gene | NR5A1 |
| CLNDBN | Premature ovarian failure 7 Spermatogenic failure 8 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.127262871C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013657.24, RCV000022775.24, |
