rs119481080

Orientation

minus

Stabilized

minus

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

Make rs119481080(A;A)

Make rs119481080(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96240777

Gene

HSD17B3

is a	snp
is	mentioned by
dbSNP	rs119481080
dbSNP (classic)	rs119481080
ClinGen	rs119481080
ebi	rs119481080
HLI	rs119481080
Exac	rs119481080
Gnomad	rs119481080
Varsome	rs119481080
LitVar	rs119481080
Map	rs119481080
PheGenI	rs119481080
Biobank	rs119481080
1000 genomes	rs119481080
hgdp	rs119481080
ensembl	rs119481080
geneview	rs119481080
scholar	rs119481080
google	rs119481080
pharmgkb	rs119481080
gwascentral	rs119481080
openSNP	rs119481080
23andMe	rs119481080
SNPshot	rs119481080
SNPdbe	rs119481080
MSV3d	rs119481080
GWAS Ctlg	rs119481080

Max Magnitude

0

OMIM	605573
Desc
Variant	0010
Related	also

ClinVar
Risk	rs119481080(A;A)
Alt	rs119481080(A;A)
Reference	Rs119481080(G;G)
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.99003059C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005157.3,