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rs869320765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CT) 3 Carrier of a premature ovarian failure mutation
Make rs869320765(CT;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position100200856
GeneGATS, STAG3
is asnp
is mentioned by
dbSNPrs869320765
dbSNP (classic)rs869320765
ClinGenrs869320765
ebirs869320765
HLIrs869320765
Exacrs869320765
Gnomadrs869320765
Varsomers869320765
LitVarrs869320765
Maprs869320765
PheGenIrs869320765
Biobankrs869320765
1000 genomesrs869320765
hgdprs869320765
ensemblrs869320765
geneviewrs869320765
scholarrs869320765
googlers869320765
pharmgkbrs869320765
gwascentralrs869320765
openSNPrs869320765
23andMers869320765
SNPshotrs869320765
SNPdbers869320765
MSV3drs869320765
GWAS Ctlgrs869320765
Max Magnitude3

c.1947_1948dupCT (p.Tyr650Serfs)

ClinVar
Risk rs869320765(CT;CT)
Alt rs869320765(CT;CT)
Reference Rs869320765(-;-)
Significance Pathogenic
Disease Premature ovarian failure 8
Variation info
Gene STAG3 GATS
CLNDBN Premature ovarian failure 8
Reversed 0
HGVS NC_000007.13:g.99798478_99798479dupCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210481.1,