rs376787666
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a premature ovarian failure mutation |
(G;G) | 0 | common/normal |
Make rs376787666(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 100199372 |
Gene | GATS, STAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs376787666 |
dbSNP (classic) | rs376787666 |
ClinGen | rs376787666 |
ebi | rs376787666 |
HLI | rs376787666 |
Exac | rs376787666 |
Gnomad | rs376787666 |
Varsome | rs376787666 |
LitVar | rs376787666 |
Map | rs376787666 |
PheGenI | rs376787666 |
Biobank | rs376787666 |
1000 genomes | rs376787666 |
hgdp | rs376787666 |
ensembl | rs376787666 |
geneview | rs376787666 |
scholar | rs376787666 |
rs376787666 | |
pharmgkb | rs376787666 |
gwascentral | rs376787666 |
openSNP | rs376787666 |
23andMe | rs376787666 |
SNPshot | rs376787666 |
SNPdbe | rs376787666 |
MSV3d | rs376787666 |
GWAS Ctlg | rs376787666 |
Max Magnitude | 3 |
aka c.1573+5G>A
Reported in [PMID 28393351] as a recessively inherited mutation in the STAG3 gene leading to primary ovarian insufficiency.