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rs121434252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434252(C;G)
Make rs121434252(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position31529370
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434252
ebirs121434252
HLIrs121434252
Exacrs121434252
Varsomers121434252
Maprs121434252
PheGenIrs121434252
hapmaprs121434252
1000 genomesrs121434252
hgdprs121434252
ensemblrs121434252
gopubmedrs121434252
geneviewrs121434252
scholarrs121434252
googlers121434252
pharmgkbrs121434252
gwascentralrs121434252
openSNPrs121434252
23andMers121434252
23andMe allrs121434252
SNP Nexus

SNPshotrs121434252
SNPdbers121434252
MSV3drs121434252
GWAS Ctlgrs121434252
Max Magnitude0
OMIM607306
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121434252(G;G)
Alt rs121434252(G;G)
Reference rs121434252(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.31754440G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003512.4,