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rs121434247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434247(A;A)
Make rs121434247(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position31531371
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434247
ebirs121434247
HLIrs121434247
Exacrs121434247
Varsomers121434247
Maprs121434247
PheGenIrs121434247
hapmaprs121434247
1000 genomesrs121434247
hgdprs121434247
ensemblrs121434247
gopubmedrs121434247
geneviewrs121434247
scholarrs121434247
googlers121434247
pharmgkbrs121434247
gwascentralrs121434247
openSNPrs121434247
23andMers121434247
23andMe allrs121434247
SNP Nexus

SNPshotrs121434247
SNPdbers121434247
MSV3drs121434247
GWAS Ctlgrs121434247
Max Magnitude0
OMIM607306
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434247(A;A)
Alt rs121434247(A;A)
Reference rs121434247(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.31756441C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003505.4,