rs119481079

Orientation

minus

Stabilized

minus

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

Make rs119481079(A;G)

Make rs119481079(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96251482

Gene	HSD17B3, LOC105376162

is a	snp
is	mentioned by
dbSNP	rs119481079
dbSNP (classic)	rs119481079
ClinGen	rs119481079
ebi	rs119481079
HLI	rs119481079
Exac	rs119481079
Gnomad	rs119481079
Varsome	rs119481079
LitVar	rs119481079
Map	rs119481079
PheGenI	rs119481079
Biobank	rs119481079
1000 genomes	rs119481079
hgdp	rs119481079
ensembl	rs119481079
geneview	rs119481079
scholar	rs119481079
google	rs119481079
pharmgkb	rs119481079
gwascentral	rs119481079
openSNP	rs119481079
23andMe	rs119481079
SNPshot	rs119481079
SNPdbe	rs119481079
MSV3d	rs119481079
GWAS Ctlg	rs119481079

Max Magnitude

0

OMIM	605573
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119481079(G;G)
Alt	rs119481079(G;G)
Reference	Rs119481079(A;A)
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.99013764T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005156.3,