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rs121964897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(T;T) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome1
Position119422523
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs121964897
ebirs121964897
HLIrs121964897
Exacrs121964897
Varsomers121964897
Maprs121964897
PheGenIrs121964897
hapmaprs121964897
1000 genomesrs121964897
hgdprs121964897
ensemblrs121964897
gopubmedrs121964897
geneviewrs121964897
scholarrs121964897
googlers121964897
pharmgkbrs121964897
gwascentralrs121964897
openSNPrs121964897
23andMers121964897
23andMe allrs121964897
SNP Nexus

SNPshotrs121964897
SNPdbers121964897
MSV3drs121964897
GWAS Ctlgrs121964897
Max Magnitude7
OMIM201810
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121964897(T;T)
Alt rs121964897(T;T)
Reference rs121964897(C;C)
Significance Pathogenic
Disease 3 beta-Hydroxysteroid dehydrogenase deficiency
Variation info
Gene HSD3B2
CLNDBN 3 beta-Hydroxysteroid dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.119965146C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012977.3,