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rs121918656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918656(A;A)
Make rs121918656(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124503393
GeneNR5A1
is asnp
is mentioned by
dbSNPrs121918656
ebirs121918656
HLIrs121918656
Exacrs121918656
Varsomers121918656
Maprs121918656
PheGenIrs121918656
hapmaprs121918656
1000 genomesrs121918656
hgdprs121918656
ensemblrs121918656
gopubmedrs121918656
geneviewrs121918656
scholarrs121918656
googlers121918656
pharmgkbrs121918656
gwascentralrs121918656
openSNPrs121918656
23andMers121918656
23andMe allrs121918656
SNP Nexus

SNPshotrs121918656
SNPdbers121918656
MSV3drs121918656
GWAS Ctlgrs121918656
Max Magnitude0
OMIM184757
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918656(A;A)
Alt rs121918656(A;A)
Reference rs121918656(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.127265672C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013652.24, RCV000013653.25,