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rs121434246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434246(A;A)
Make rs121434246(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position31533704
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434246
ClinGenrs121434246
ebirs121434246
HLIrs121434246
Exacrs121434246
Varsomers121434246
Maprs121434246
PheGenIrs121434246
hapmaprs121434246
1000 genomesrs121434246
hgdprs121434246
ensemblrs121434246
gopubmedrs121434246
geneviewrs121434246
scholarrs121434246
googlers121434246
pharmgkbrs121434246
gwascentralrs121434246
openSNPrs121434246
23andMers121434246
23andMe allrs121434246
SNP Nexus

SNPshotrs121434246
SNPdbers121434246
MSV3drs121434246
GWAS Ctlgrs121434246
Max Magnitude0
OMIM607306
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434246(A;A)
Alt rs121434246(A;A)
Reference Rs121434246(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.31758774C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003504.4,