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rs28934880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
(A;C) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position119415448
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs28934880
dbSNP (old)rs28934880
ClinGenrs28934880
ebirs28934880
HLIrs28934880
Exacrs28934880
Varsomers28934880
Maprs28934880
PheGenIrs28934880
Biobankrs28934880
1000 genomesrs28934880
hgdprs28934880
ensemblrs28934880
gopubmedrs28934880
geneviewrs28934880
scholarrs28934880
googlers28934880
pharmgkbrs28934880
gwascentralrs28934880
openSNPrs28934880
23andMers28934880
23andMe allrs28934880
SNP Nexus

SNPshotrs28934880
SNPdbers28934880
MSV3drs28934880
GWAS Ctlgrs28934880
Max Magnitude7
OMIM201810
Desc3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
Variant0005
Relatedalso


ClinVar
Risk Rs28934880(A;A)
Alt Rs28934880(A;A)
Reference Rs28934880(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.119958071C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012971.4,