rs80358220

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

119422165

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358220
dbSNP (classic)	rs80358220
ClinGen	rs80358220
ebi	rs80358220
HLI	rs80358220
Exac	rs80358220
Gnomad	rs80358220
Varsome	rs80358220
LitVar	rs80358220
Map	rs80358220
PheGenI	rs80358220
Biobank	rs80358220
1000 genomes	rs80358220
hgdp	rs80358220
ensembl	rs80358220
geneview	rs80358220
scholar	rs80358220
google	rs80358220
pharmgkb	rs80358220
gwascentral	rs80358220
openSNP	rs80358220
23andMe	rs80358220
SNPshot	rs80358220
SNPdbe	rs80358220
MSV3d	rs80358220
GWAS Ctlg	rs80358220

Max Magnitude

7

OMIM	201810
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs80358220(A;A) rs80358220(G;G)
Alt	Rs80358220(A;A) rs80358220(G;G)
Reference	Rs80358220(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.119964788C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012974.3,