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rs121434249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434249(A;A)
Make rs121434249(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position31529323
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs121434249
ebirs121434249
HLIrs121434249
Exacrs121434249
Varsomers121434249
Maprs121434249
PheGenIrs121434249
hapmaprs121434249
1000 genomesrs121434249
hgdprs121434249
ensemblrs121434249
gopubmedrs121434249
geneviewrs121434249
scholarrs121434249
googlers121434249
pharmgkbrs121434249
gwascentralrs121434249
openSNPrs121434249
23andMers121434249
23andMe allrs121434249
SNP Nexus

SNPshotrs121434249
SNPdbers121434249
MSV3drs121434249
GWAS Ctlgrs121434249
Max Magnitude0
OMIM607306
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434249(A,C;A,C)
Alt rs121434249(A,C;A,C)
Reference rs121434249(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.31754393C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003508.5,