rs1057516859

Orientation

plus

Stabilized

plus

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

Make rs1057516859(-;-)

Make rs1057516859(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119514983

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516859
dbSNP (classic)	rs1057516859
ClinGen	rs1057516859
ebi	rs1057516859
HLI	rs1057516859
Exac	rs1057516859
Gnomad	rs1057516859
Varsome	rs1057516859
LitVar	rs1057516859
Map	rs1057516859
PheGenI	rs1057516859
Biobank	rs1057516859
1000 genomes	rs1057516859
hgdp	rs1057516859
ensembl	rs1057516859
geneview	rs1057516859
scholar	rs1057516859
google	rs1057516859
pharmgkb	rs1057516859
gwascentral	rs1057516859
openSNP	rs1057516859
23andMe	rs1057516859
SNPshot	rs1057516859
SNPdbe	rs1057516859
MSV3d	rs1057516859
GWAS Ctlg	rs1057516859

Max Magnitude

0

ClinVar
Risk	rs1057516859(-;-)
Alt	rs1057516859(-;-)
Reference	Rs1057516859(AG;AG)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118850678_118850679delAG
CLNSRC
CLNACC	RCV000409302.1,