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rs121434244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434244(C;T)
Make rs121434244(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31526225
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434244
ebirs121434244
HLIrs121434244
Exacrs121434244
Varsomers121434244
Maprs121434244
PheGenIrs121434244
hapmaprs121434244
1000 genomesrs121434244
hgdprs121434244
ensemblrs121434244
gopubmedrs121434244
geneviewrs121434244
scholarrs121434244
googlers121434244
pharmgkbrs121434244
gwascentralrs121434244
openSNPrs121434244
23andMers121434244
23andMe allrs121434244
SNP Nexus

SNPshotrs121434244
SNPdbers121434244
MSV3drs121434244
GWAS Ctlgrs121434244
Max Magnitude0
OMIM607306
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434244(T;T)
Alt rs121434244(T;T)
Reference rs121434244(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.31751295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003501.4,