rs119481076

Orientation

minus

Stabilized

minus

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

Make rs119481076(C;T)

Make rs119481076(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

96244393

Gene	HSD17B3, LOC105376162

is a	snp
is	mentioned by
dbSNP	rs119481076
dbSNP (classic)	rs119481076
ClinGen	rs119481076
ebi	rs119481076
HLI	rs119481076
Exac	rs119481076
Gnomad	rs119481076
Varsome	rs119481076
LitVar	rs119481076
Map	rs119481076
PheGenI	rs119481076
Biobank	rs119481076
1000 genomes	rs119481076
hgdp	rs119481076
ensembl	rs119481076
geneview	rs119481076
scholar	rs119481076
google	rs119481076
pharmgkb	rs119481076
gwascentral	rs119481076
openSNP	rs119481076
23andMe	rs119481076
SNPshot	rs119481076
SNPdbe	rs119481076
MSV3d	rs119481076
GWAS Ctlg	rs119481076

Max Magnitude

0

OMIM	605573
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119481076(A;A) rs119481076(T;T)
Alt	rs119481076(A;A) rs119481076(T;T)
Reference	Rs119481076(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.99006675G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005151.2,