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rs80358219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position119421925
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs80358219
ebirs80358219
HLIrs80358219
Exacrs80358219
Varsomers80358219
Maprs80358219
PheGenIrs80358219
hapmaprs80358219
1000 genomesrs80358219
hgdprs80358219
ensemblrs80358219
gopubmedrs80358219
geneviewrs80358219
scholarrs80358219
googlers80358219
pharmgkbrs80358219
gwascentralrs80358219
openSNPrs80358219
23andMers80358219
23andMe allrs80358219
SNP Nexus

SNPshotrs80358219
SNPdbers80358219
MSV3drs80358219
GWAS Ctlgrs80358219
Max Magnitude7
OMIM201810
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80358219(A,T;A,T)
Alt rs80358219(A,T;A,T)
Reference rs80358219(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.119964548G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012973.3,