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rs121908653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908653(C;C)
Make rs121908653(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position22142888
GeneLOC105376845, WNT4
is asnp
is mentioned by
dbSNPrs121908653
dbSNP (classic)rs121908653
ClinGenrs121908653
ebirs121908653
HLIrs121908653
Exacrs121908653
Gnomadrs121908653
Varsomers121908653
LitVarrs121908653
Maprs121908653
PheGenIrs121908653
Biobankrs121908653
1000 genomesrs121908653
hgdprs121908653
ensemblrs121908653
geneviewrs121908653
scholarrs121908653
googlers121908653
pharmgkbrs121908653
gwascentralrs121908653
openSNPrs121908653
23andMers121908653
SNPshotrs121908653
SNPdbers121908653
MSV3drs121908653
GWAS Ctlgrs121908653
Max Magnitude0
OMIM603490
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908653(C;C)
Alt rs121908653(C;C)
Reference Rs121908653(T;T)
Significance Pathogenic
Disease Mullerian aplasia and hyperandrogenism
Variation info
Gene WNT4
CLNDBN Mullerian aplasia and hyperandrogenism
Reversed 1
HGVS NC_000001.10:g.22469381A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006691.2,