rs80358221

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

119422277

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358221
dbSNP (classic)	rs80358221
ClinGen	rs80358221
ebi	rs80358221
HLI	rs80358221
Exac	rs80358221
Gnomad	rs80358221
Varsome	rs80358221
LitVar	rs80358221
Map	rs80358221
PheGenI	rs80358221
Biobank	rs80358221
1000 genomes	rs80358221
hgdp	rs80358221
ensembl	rs80358221
geneview	rs80358221
scholar	rs80358221
google	rs80358221
pharmgkb	rs80358221
gwascentral	rs80358221
openSNP	rs80358221
23andMe	rs80358221
SNPshot	rs80358221
SNPdbe	rs80358221
MSV3d	rs80358221
GWAS Ctlg	rs80358221

Max Magnitude

7

OMIM	201810
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs80358221(T;T)
Alt	Rs80358221(T;T)
Reference	Rs80358221(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.119964900C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012975.3,