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rs121434248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434248(C;T)
Make rs121434248(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31529326
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434248
ebirs121434248
HLIrs121434248
Exacrs121434248
Varsomers121434248
Maprs121434248
PheGenIrs121434248
hapmaprs121434248
1000 genomesrs121434248
hgdprs121434248
ensemblrs121434248
gopubmedrs121434248
geneviewrs121434248
scholarrs121434248
googlers121434248
pharmgkbrs121434248
gwascentralrs121434248
openSNPrs121434248
23andMers121434248
23andMe allrs121434248
SNP Nexus

SNPshotrs121434248
SNPdbers121434248
MSV3drs121434248
GWAS Ctlgrs121434248
Max Magnitude0
OMIM607306
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434248(T;T)
Alt rs121434248(T;T)
Reference rs121434248(C;C)
Significance Pathogenic
Disease 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Variation info
Gene SRD5A2
CLNDBN 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Reversed 1
HGVS NC_000002.11:g.31754396G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003506.4,