rs80358219

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

119421925

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358219
dbSNP (classic)	rs80358219
ClinGen	rs80358219
ebi	rs80358219
HLI	rs80358219
Exac	rs80358219
Gnomad	rs80358219
Varsome	rs80358219
LitVar	rs80358219
Map	rs80358219
PheGenI	rs80358219
Biobank	rs80358219
1000 genomes	rs80358219
hgdp	rs80358219
ensembl	rs80358219
geneview	rs80358219
scholar	rs80358219
google	rs80358219
pharmgkb	rs80358219
gwascentral	rs80358219
openSNP	rs80358219
23andMe	rs80358219
SNPshot	rs80358219
SNPdbe	rs80358219
MSV3d	rs80358219
GWAS Ctlg	rs80358219

Max Magnitude

7

OMIM	201810
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs80358219(A;A) rs80358219(T;T)
Alt	Rs80358219(A;A) rs80358219(T;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 UniProtKB (protein)
CLNACC	RCV000012973.3,