rs119481077

Orientation

minus

Stabilized

minus

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

Make rs119481077(C;T)

Make rs119481077(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96254907

Gene	HSD17B3, LOC105376162

is a	snp
is	mentioned by
dbSNP	rs119481077
dbSNP (classic)	rs119481077
ClinGen	rs119481077
ebi	rs119481077
HLI	rs119481077
Exac	rs119481077
Gnomad	rs119481077
Varsome	rs119481077
LitVar	rs119481077
Map	rs119481077
PheGenI	rs119481077
Biobank	rs119481077
1000 genomes	rs119481077
hgdp	rs119481077
ensembl	rs119481077
geneview	rs119481077
scholar	rs119481077
google	rs119481077
pharmgkb	rs119481077
gwascentral	rs119481077
openSNP	rs119481077
23andMe	rs119481077
SNPshot	rs119481077
SNPdbe	rs119481077
MSV3d	rs119481077
GWAS Ctlg	rs119481077

Max Magnitude

0

OMIM	605573
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119481077(T;T)
Alt	rs119481077(T;T)
Reference	Rs119481077(C;C)
Significance	Pathogenic
Disease	Testosterone 17-beta-dehydrogenase deficiency 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
Variation	info
Gene	HSD17B3
CLNDBN	Testosterone 17-beta-dehydrogenase deficiency 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
Reversed	1
HGVS	NC_000009.11:g.99017189G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005153.2, RCV000403435.1,