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, |