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rs121434251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434251(A;G)
Make rs121434251(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position31529313
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434251
ebirs121434251
HLIrs121434251
Exacrs121434251
Varsomers121434251
Maprs121434251
PheGenIrs121434251
hapmaprs121434251
1000 genomesrs121434251
hgdprs121434251
ensemblrs121434251
gopubmedrs121434251
geneviewrs121434251
scholarrs121434251
googlers121434251
pharmgkbrs121434251
gwascentralrs121434251
openSNPrs121434251
23andMers121434251
23andMe allrs121434251
SNP Nexus

SNPshotrs121434251
SNPdbers121434251
MSV3drs121434251
GWAS Ctlgrs121434251
Max Magnitude0
OMIM607306
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434251(G;G)
Alt rs121434251(G;G)
Reference rs121434251(A;A)
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.31754383T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003510.4,