rs121964896

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

119422243

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs121964896
dbSNP (classic)	rs121964896
ClinGen	rs121964896
ebi	rs121964896
HLI	rs121964896
Exac	rs121964896
Gnomad	rs121964896
Varsome	rs121964896
LitVar	rs121964896
Map	rs121964896
PheGenI	rs121964896
Biobank	rs121964896
1000 genomes	rs121964896
hgdp	rs121964896
ensembl	rs121964896
geneview	rs121964896
scholar	rs121964896
google	rs121964896
pharmgkb	rs121964896
gwascentral	rs121964896
openSNP	rs121964896
23andMe	rs121964896
SNPshot	rs121964896
SNPdbe	rs121964896
MSV3d	rs121964896
GWAS Ctlg	rs121964896

Max Magnitude

7

OMIM	201810
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs121964896(AA;AA)
Alt	Rs121964896(AA;AA)
Reference	Rs121964896(GT;GT)
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.119964866_119964867delGTinsAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012969.3,