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rs121434245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434245(A;A)
Make rs121434245(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31580737
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434245
ebirs121434245
HLIrs121434245
Exacrs121434245
Varsomers121434245
Maprs121434245
PheGenIrs121434245
hapmaprs121434245
1000 genomesrs121434245
hgdprs121434245
ensemblrs121434245
gopubmedrs121434245
geneviewrs121434245
scholarrs121434245
googlers121434245
pharmgkbrs121434245
gwascentralrs121434245
openSNPrs121434245
23andMers121434245
23andMe allrs121434245
SNP Nexus

SNPshotrs121434245
SNPdbers121434245
MSV3drs121434245
GWAS Ctlgrs121434245
Max Magnitude0
OMIM607306
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434245(A;A)
Alt rs121434245(A;A)
Reference rs121434245(T;T)
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.31805807A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003503.3,