rs28934880

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7	3HSDB2 deficiency; congenital adrenal hyperplasia
(A;C)	3	Unaffected carrier of a 3HSDB2 deficiency mutation
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

119415448

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs28934880
dbSNP (classic)	rs28934880
ClinGen	rs28934880
ebi	rs28934880
HLI	rs28934880
Exac	rs28934880
Gnomad	rs28934880
Varsome	rs28934880
LitVar	rs28934880
Map	rs28934880
PheGenI	rs28934880
Biobank	rs28934880
1000 genomes	rs28934880
hgdp	rs28934880
ensembl	rs28934880
geneview	rs28934880
scholar	rs28934880
google	rs28934880
pharmgkb	rs28934880
gwascentral	rs28934880
openSNP	rs28934880
23andMe	rs28934880
SNPshot	rs28934880
SNPdbe	rs28934880
MSV3d	rs28934880
GWAS Ctlg	rs28934880

Max Magnitude

7

OMIM	201810
Desc	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
Variant	0005
Related	also

ClinVar
Risk	Rs28934880(A;A)
Alt	Rs28934880(A;A)
Reference	Rs28934880(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.119958071C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012971.4,