rs121964897

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

119422523

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs121964897
dbSNP (classic)	rs121964897
ClinGen	rs121964897
ebi	rs121964897
HLI	rs121964897
Exac	rs121964897
Gnomad	rs121964897
Varsome	rs121964897
LitVar	rs121964897
Map	rs121964897
PheGenI	rs121964897
Biobank	rs121964897
1000 genomes	rs121964897
hgdp	rs121964897
ensembl	rs121964897
geneview	rs121964897
scholar	rs121964897
google	rs121964897
pharmgkb	rs121964897
gwascentral	rs121964897
openSNP	rs121964897
23andMe	rs121964897
SNPshot	rs121964897
SNPdbe	rs121964897
MSV3d	rs121964897
GWAS Ctlg	rs121964897

Max Magnitude

7

OMIM	201810
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121964897(T;T)
Alt	Rs121964897(T;T)
Reference	Rs121964897(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.119965146C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012977.3,