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rs80358221

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
Position119422277
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358221
ebirs80358221
HLIrs80358221
Exacrs80358221
Varsomers80358221
Maprs80358221
PheGenIrs80358221
hapmaprs80358221
1000 genomesrs80358221
hgdprs80358221
ensemblrs80358221
gopubmedrs80358221
geneviewrs80358221
scholarrs80358221
googlers80358221
pharmgkbrs80358221
gwascentralrs80358221
openSNPrs80358221
23andMers80358221
23andMe allrs80358221
SNP Nexus

SNPshotrs80358221
SNPdbers80358221
MSV3drs80358221
GWAS Ctlgrs80358221
Max Magnitude7
OMIM201810
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80358221(T;T)
Alt rs80358221(T;T)
Reference rs80358221(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.119964900C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012975.3,