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, |