rs1057516958

Orientation

plus

Stabilized

plus

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

Make rs1057516958(G;T)

Make rs1057516958(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119475871

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516958
dbSNP (classic)	rs1057516958
ClinGen	rs1057516958
ebi	rs1057516958
HLI	rs1057516958
Exac	rs1057516958
Gnomad	rs1057516958
Varsome	rs1057516958
LitVar	rs1057516958
Map	rs1057516958
PheGenI	rs1057516958
Biobank	rs1057516958
1000 genomes	rs1057516958
hgdp	rs1057516958
ensembl	rs1057516958
geneview	rs1057516958
scholar	rs1057516958
google	rs1057516958
pharmgkb	rs1057516958
gwascentral	rs1057516958
openSNP	rs1057516958
23andMe	rs1057516958
SNPshot	rs1057516958
SNPdbe	rs1057516958
MSV3d	rs1057516958
GWAS Ctlg	rs1057516958

Max Magnitude

0

ClinVar
Risk	rs1057516958(T;T)
Alt	rs1057516958(T;T)
Reference	Rs1057516958(G;G)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118811566G>T
CLNSRC
CLNACC	RCV000412316.1,