rs28939085

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28939085(C;T)

Make rs28939085(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96240885

Gene

HSD17B3

is a	snp
is	mentioned by
dbSNP	rs28939085
dbSNP (classic)	rs28939085
ClinGen	rs28939085
ebi	rs28939085
HLI	rs28939085
Exac	rs28939085
Gnomad	rs28939085
Varsome	rs28939085
LitVar	rs28939085
Map	rs28939085
PheGenI	rs28939085
Biobank	rs28939085
1000 genomes	rs28939085
hgdp	rs28939085
ensembl	rs28939085
geneview	rs28939085
scholar	rs28939085
google	rs28939085
pharmgkb	rs28939085
gwascentral	rs28939085
openSNP	rs28939085
23andMe	rs28939085
SNPshot	rs28939085
SNPdbe	rs28939085
MSV3d	rs28939085
GWAS Ctlg	rs28939085

Max Magnitude

0

OMIM	605573
Desc	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28939085(T;T)
Alt	rs28939085(T;T)
Reference	Rs28939085(C;C)
Significance	Pathogenic
Disease	Testosterone 17-beta-dehydrogenase deficiency
Variation	info
Gene	HSD17B3
CLNDBN	Testosterone 17-beta-dehydrogenase deficiency
Reversed	1
HGVS	NC_000009.11:g.99003167G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005148.3,