rs775441984
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs775441984(C;T) |
| Make rs775441984(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 124503172 |
| Gene | NR5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775441984 |
| dbSNP (classic) | rs775441984 |
| ClinGen | rs775441984 |
| ebi | rs775441984 |
| HLI | rs775441984 |
| Exac | rs775441984 |
| Gnomad | rs775441984 |
| Varsome | rs775441984 |
| LitVar | rs775441984 |
| Map | rs775441984 |
| PheGenI | rs775441984 |
| Biobank | rs775441984 |
| 1000 genomes | rs775441984 |
| hgdp | rs775441984 |
| ensembl | rs775441984 |
| geneview | rs775441984 |
| scholar | rs775441984 |
| rs775441984 | |
| pharmgkb | rs775441984 |
| gwascentral | rs775441984 |
| openSNP | rs775441984 |
| 23andMe | rs775441984 |
| SNPshot | rs775441984 |
| SNPdbe | rs775441984 |
| MSV3d | rs775441984 |
| GWAS Ctlg | rs775441984 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775441984(A;A) rs775441984(T;T) |
| Alt | rs775441984(A;A) rs775441984(T;T) |
| Reference | Rs775441984(C;C) |
| Significance | Pathogenic |
| Disease | 46 |
| Variation | info |
| Gene | NR5A1 |
| CLNDBN | 46,XY sex reversal, type 3 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.127265451C>A |
| CLNSRC | |
| CLNACC | RCV000197157.1, |
