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rs80358218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(C;C) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome1
Position119422620
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358218
ebirs80358218
HLIrs80358218
Exacrs80358218
Varsomers80358218
Maprs80358218
PheGenIrs80358218
hapmaprs80358218
1000 genomesrs80358218
hgdprs80358218
ensemblrs80358218
gopubmedrs80358218
geneviewrs80358218
scholarrs80358218
googlers80358218
pharmgkbrs80358218
gwascentralrs80358218
openSNPrs80358218
23andMers80358218
23andMe allrs80358218
SNP Nexus

SNPshotrs80358218
SNPdbers80358218
MSV3drs80358218
GWAS Ctlgrs80358218
Max Magnitude7
OMIM201810
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80358218(C,G;C,G)
Alt rs80358218(C,G;C,G)
Reference rs80358218(A;A)
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.119965243A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012972.3,