rs119481078

Orientation

minus

Stabilized

minus

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

Make rs119481078(A;A)

Make rs119481078(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96298451

Gene

HSD17B3

is a	snp
is	mentioned by
dbSNP	rs119481078
dbSNP (classic)	rs119481078
ClinGen	rs119481078
ebi	rs119481078
HLI	rs119481078
Exac	rs119481078
Gnomad	rs119481078
Varsome	rs119481078
LitVar	rs119481078
Map	rs119481078
PheGenI	rs119481078
Biobank	rs119481078
1000 genomes	rs119481078
hgdp	rs119481078
ensembl	rs119481078
geneview	rs119481078
scholar	rs119481078
google	rs119481078
pharmgkb	rs119481078
gwascentral	rs119481078
openSNP	rs119481078
23andMe	rs119481078
SNPshot	rs119481078
SNPdbe	rs119481078
MSV3d	rs119481078
GWAS Ctlg	rs119481078

Max Magnitude

0

OMIM	605573
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119481078(A;A)
Alt	rs119481078(A;A)
Reference	Rs119481078(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.99060733C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005155.2,