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rs80358217

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
Position119422246
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358217
ebirs80358217
HLIrs80358217
Exacrs80358217
Varsomers80358217
Maprs80358217
PheGenIrs80358217
hapmaprs80358217
1000 genomesrs80358217
hgdprs80358217
ensemblrs80358217
gopubmedrs80358217
geneviewrs80358217
scholarrs80358217
googlers80358217
pharmgkbrs80358217
gwascentralrs80358217
openSNPrs80358217
23andMers80358217
23andMe allrs80358217
SNP Nexus

SNPshotrs80358217
SNPdbers80358217
MSV3drs80358217
GWAS Ctlgrs80358217
Max Magnitude7
OMIM201810
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80358217(T;T)
Alt rs80358217(T;T)
Reference rs80358217(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.119964869C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012970.2,