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rs80358216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
(A;G) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position119422013
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358216
ebirs80358216
HLIrs80358216
Exacrs80358216
Varsomers80358216
Maprs80358216
PheGenIrs80358216
hapmaprs80358216
1000 genomesrs80358216
hgdprs80358216
ensemblrs80358216
gopubmedrs80358216
geneviewrs80358216
scholarrs80358216
googlers80358216
pharmgkbrs80358216
gwascentralrs80358216
openSNPrs80358216
23andMers80358216
23andMe allrs80358216
SNP Nexus

SNPshotrs80358216
SNPdbers80358216
MSV3drs80358216
GWAS Ctlgrs80358216
Max Magnitude7
OMIM201810
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358216(A;A)
Alt rs80358216(A;A)
Reference rs80358216(G;G)
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.119964636G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012967.3,