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rs587777267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 3 Carrier of a premature ovarian failure mutation
(C;C) 0 common in clinvar


Make rs587777267(-;-)
ReferenceGRCh38 38.1/142
Chromosome7
Position100188862
GeneGATS, STAG3
is asnp
is mentioned by
dbSNPrs587777267
dbSNP (classic)rs587777267
ClinGenrs587777267
ebirs587777267
HLIrs587777267
Exacrs587777267
Gnomadrs587777267
Varsomers587777267
LitVarrs587777267
Maprs587777267
PheGenIrs587777267
Biobankrs587777267
1000 genomesrs587777267
hgdprs587777267
ensemblrs587777267
geneviewrs587777267
scholarrs587777267
googlers587777267
pharmgkbrs587777267
gwascentralrs587777267
openSNPrs587777267
23andMers587777267
SNPshotrs587777267
SNPdbers587777267
MSV3drs587777267
GWAS Ctlgrs587777267
Max Magnitude3

c.561delC (p.Gln188Argfs)

ClinVar
Risk rs587777267(-;-)
Alt rs587777267(-;-)
Reference Rs587777267(C;C)
Significance Pathogenic
Disease Premature ovarian failure 8
Variation info
Gene STAG3
CLNDBN Premature ovarian failure 8
Reversed 0
HGVS NC_000007.13:g.99786485delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000114367.4,