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rs121918655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918655(A;A)
Make rs121918655(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124493143
GeneNR5A1
is asnp
is mentioned by
dbSNPrs121918655
dbSNP (classic)rs121918655
ClinGenrs121918655
ebirs121918655
HLIrs121918655
Exacrs121918655
Gnomadrs121918655
Varsomers121918655
LitVarrs121918655
Maprs121918655
PheGenIrs121918655
Biobankrs121918655
1000 genomesrs121918655
hgdprs121918655
ensemblrs121918655
geneviewrs121918655
scholarrs121918655
googlers121918655
pharmgkbrs121918655
gwascentralrs121918655
openSNPrs121918655
23andMers121918655
SNPshotrs121918655
SNPdbers121918655
MSV3drs121918655
GWAS Ctlgrs121918655
Max Magnitude0
OMIM184757
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918655(A;A)
Alt rs121918655(A;A)
Reference Rs121918655(G;G)
Significance Pathogenic
Disease 46 Premature ovarian failure 7
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3 Premature ovarian failure 7
Reversed 1
HGVS NC_000009.11:g.127255422C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013650.25, RCV000013651.19,