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rs121434250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434250(A;A)
Make rs121434250(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position31529419
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434250
ebirs121434250
HLIrs121434250
Exacrs121434250
Varsomers121434250
Maprs121434250
PheGenIrs121434250
hapmaprs121434250
1000 genomesrs121434250
hgdprs121434250
ensemblrs121434250
gopubmedrs121434250
geneviewrs121434250
scholarrs121434250
googlers121434250
pharmgkbrs121434250
gwascentralrs121434250
openSNPrs121434250
23andMers121434250
23andMe allrs121434250
SNP Nexus

SNPshotrs121434250
SNPdbers121434250
MSV3drs121434250
GWAS Ctlgrs121434250
Max Magnitude0
OMIM607306
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121434250(A;A)
Alt rs121434250(A;A)
Reference rs121434250(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.31754489C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003509.4,