rs1057516936

Orientation

plus

Stabilized

plus

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

Make rs1057516936(-;-)

Make rs1057516936(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119527169

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516936
dbSNP (classic)	rs1057516936
ClinGen	rs1057516936
ebi	rs1057516936
HLI	rs1057516936
Exac	rs1057516936
Gnomad	rs1057516936
Varsome	rs1057516936
LitVar	rs1057516936
Map	rs1057516936
PheGenI	rs1057516936
Biobank	rs1057516936
1000 genomes	rs1057516936
hgdp	rs1057516936
ensembl	rs1057516936
geneview	rs1057516936
scholar	rs1057516936
google	rs1057516936
pharmgkb	rs1057516936
gwascentral	rs1057516936
openSNP	rs1057516936
23andMe	rs1057516936
SNPshot	rs1057516936
SNPdbe	rs1057516936
MSV3d	rs1057516936
GWAS Ctlg	rs1057516936

Max Magnitude

0

ClinVar
Risk	rs1057516936(-;-)
Alt	rs1057516936(-;-)
Reference	Rs1057516936(CT;CT)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118862864_118862865delCT
CLNSRC
CLNACC	RCV000410138.1,