rs1085307072

Orientation

plus

Stabilized

plus

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

Chromosome

5

Position

119452578

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1085307072
dbSNP (classic)	rs1085307072
ClinGen	rs1085307072
ebi	rs1085307072
HLI	rs1085307072
Exac	rs1085307072
Gnomad	rs1085307072
Varsome	rs1085307072
LitVar	rs1085307072
Map	rs1085307072
PheGenI	rs1085307072
Biobank	rs1085307072
1000 genomes	rs1085307072
hgdp	rs1085307072
ensembl	rs1085307072
geneview	rs1085307072
scholar	rs1085307072
google	rs1085307072
pharmgkb	rs1085307072
gwascentral	rs1085307072
openSNP	rs1085307072
23andMe	rs1085307072
SNPshot	rs1085307072
SNPdbe	rs1085307072
MSV3d	rs1085307072
GWAS Ctlg	rs1085307072

Max Magnitude

0

ClinVar
Risk	rs1085307072(A;A)
Alt	rs1085307072(A;A)
Reference	Rs1085307072(G;G)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed	0
HGVS	NC_000005.9:g.118788273G>A
CLNSRC
CLNACC	RCV000490425.1,