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rs80358220

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
Position119422165
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358220
ebirs80358220
HLIrs80358220
Exacrs80358220
Varsomers80358220
Maprs80358220
PheGenIrs80358220
hapmaprs80358220
1000 genomesrs80358220
hgdprs80358220
ensemblrs80358220
gopubmedrs80358220
geneviewrs80358220
scholarrs80358220
googlers80358220
pharmgkbrs80358220
gwascentralrs80358220
openSNPrs80358220
23andMers80358220
23andMe allrs80358220
SNP Nexus

SNPshotrs80358220
SNPdbers80358220
MSV3drs80358220
GWAS Ctlgrs80358220
Max Magnitude7
OMIM201810
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80358220(A,G;A,G)
Alt rs80358220(A,G;A,G)
Reference rs80358220(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.119964788C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012974.3,