rs200749741
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200749741(A;A) |
| Make rs200749741(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 124500574 |
| Gene | NR5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200749741 |
| dbSNP (classic) | rs200749741 |
| ClinGen | rs200749741 |
| ebi | rs200749741 |
| HLI | rs200749741 |
| Exac | rs200749741 |
| Gnomad | rs200749741 |
| Varsome | rs200749741 |
| LitVar | rs200749741 |
| Map | rs200749741 |
| PheGenI | rs200749741 |
| Biobank | rs200749741 |
| 1000 genomes | rs200749741 |
| hgdp | rs200749741 |
| ensembl | rs200749741 |
| geneview | rs200749741 |
| scholar | rs200749741 |
| rs200749741 | |
| pharmgkb | rs200749741 |
| gwascentral | rs200749741 |
| openSNP | rs200749741 |
| 23andMe | rs200749741 |
| SNPshot | rs200749741 |
| SNPdbe | rs200749741 |
| MSV3d | rs200749741 |
| GWAS Ctlg | rs200749741 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200749741(A;A) |
| Alt | rs200749741(A;A) |
| Reference | Rs200749741(G;G) |
| 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.127262853G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013657.24, RCV000022775.24, |
