rs80358218

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

119422620

Gene

HSD3B2

is a	snp
is	mentioned by
dbSNP	rs80358218
dbSNP (classic)	rs80358218
ClinGen	rs80358218
ebi	rs80358218
HLI	rs80358218
Exac	rs80358218
Gnomad	rs80358218
Varsome	rs80358218
LitVar	rs80358218
Map	rs80358218
PheGenI	rs80358218
Biobank	rs80358218
1000 genomes	rs80358218
hgdp	rs80358218
ensembl	rs80358218
geneview	rs80358218
scholar	rs80358218
google	rs80358218
pharmgkb	rs80358218
gwascentral	rs80358218
openSNP	rs80358218
23andMe	rs80358218
SNPshot	rs80358218
SNPdbe	rs80358218
MSV3d	rs80358218
GWAS Ctlg	rs80358218

Max Magnitude

7

OMIM	201810
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs80358218(C;C) rs80358218(G;G)
Alt	Rs80358218(C;C) rs80358218(G;G)
Reference	Rs80358218(A;A)
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.119965243A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012972.3,