rs80358216

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

119422013

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358216
dbSNP (classic)	rs80358216
ClinGen	rs80358216
ebi	rs80358216
HLI	rs80358216
Exac	rs80358216
Gnomad	rs80358216
Varsome	rs80358216
LitVar	rs80358216
Map	rs80358216
PheGenI	rs80358216
Biobank	rs80358216
1000 genomes	rs80358216
hgdp	rs80358216
ensembl	rs80358216
geneview	rs80358216
scholar	rs80358216
google	rs80358216
pharmgkb	rs80358216
gwascentral	rs80358216
openSNP	rs80358216
23andMe	rs80358216
SNPshot	rs80358216
SNPdbe	rs80358216
MSV3d	rs80358216
GWAS Ctlg	rs80358216

Max Magnitude

7

OMIM	201810
Desc
Variant	0001
Related	also

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,