rs80358217

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

119422246

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358217
dbSNP (classic)	rs80358217
ClinGen	rs80358217
ebi	rs80358217
HLI	rs80358217
Exac	rs80358217
Gnomad	rs80358217
Varsome	rs80358217
LitVar	rs80358217
Map	rs80358217
PheGenI	rs80358217
Biobank	rs80358217
1000 genomes	rs80358217
hgdp	rs80358217
ensembl	rs80358217
geneview	rs80358217
scholar	rs80358217
google	rs80358217
pharmgkb	rs80358217
gwascentral	rs80358217
openSNP	rs80358217
23andMe	rs80358217
SNPshot	rs80358217
SNPdbe	rs80358217
MSV3d	rs80358217
GWAS Ctlg	rs80358217

Max Magnitude

7

OMIM	201810
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs80358217(T;T)
Alt	Rs80358217(T;T)
Reference	Rs80358217(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.119964869C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012970.2,