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rs376787666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a premature ovarian failure mutation
(G;G) 0 common/normal


Make rs376787666(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position100199372
GeneGATS, STAG3
is asnp
is mentioned by
dbSNPrs376787666
dbSNP (classic)rs376787666
ClinGenrs376787666
ebirs376787666
HLIrs376787666
Exacrs376787666
Gnomadrs376787666
Varsomers376787666
LitVarrs376787666
Maprs376787666
PheGenIrs376787666
Biobankrs376787666
1000 genomesrs376787666
hgdprs376787666
ensemblrs376787666
geneviewrs376787666
scholarrs376787666
googlers376787666
pharmgkbrs376787666
gwascentralrs376787666
openSNPrs376787666
23andMers376787666
SNPshotrs376787666
SNPdbers376787666
MSV3drs376787666
GWAS Ctlgrs376787666
Max Magnitude3

aka c.1573+5G>A

Reported in [PMID 28393351] as a recessively inherited mutation in the STAG3 gene leading to primary ovarian insufficiency.