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rs121434253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434253(G;T)
Make rs121434253(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31529414
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434253
ebirs121434253
HLIrs121434253
Exacrs121434253
Varsomers121434253
Maprs121434253
PheGenIrs121434253
hapmaprs121434253
1000 genomesrs121434253
hgdprs121434253
ensemblrs121434253
gopubmedrs121434253
geneviewrs121434253
scholarrs121434253
googlers121434253
pharmgkbrs121434253
gwascentralrs121434253
openSNPrs121434253
23andMers121434253
23andMe allrs121434253
SNP Nexus

SNPshotrs121434253
SNPdbers121434253
MSV3drs121434253
GWAS Ctlgrs121434253
Max Magnitude0
OMIM607306
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121434253(T;T)
Alt rs121434253(T;T)
Reference rs121434253(G;G)
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.31754484C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003513.5,