rs1057516735

Orientation

plus

Stabilized

plus

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

Make rs1057516735(G;G)

Make rs1057516735(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119506824

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516735
dbSNP (classic)	rs1057516735
ClinGen	rs1057516735
ebi	rs1057516735
HLI	rs1057516735
Exac	rs1057516735
Gnomad	rs1057516735
Varsome	rs1057516735
LitVar	rs1057516735
Map	rs1057516735
PheGenI	rs1057516735
Biobank	rs1057516735
1000 genomes	rs1057516735
hgdp	rs1057516735
ensembl	rs1057516735
geneview	rs1057516735
scholar	rs1057516735
google	rs1057516735
pharmgkb	rs1057516735
gwascentral	rs1057516735
openSNP	rs1057516735
23andMe	rs1057516735
SNPshot	rs1057516735
SNPdbe	rs1057516735
MSV3d	rs1057516735
GWAS Ctlg	rs1057516735

Max Magnitude

0

ClinVar
Risk	rs1057516735(G;G)
Alt	rs1057516735(G;G)
Reference	Rs1057516735(T;T)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118842519T>G
CLNSRC
CLNACC	RCV000412021.1,