rs1057516312

Orientation

plus

Stabilized

plus

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

Make rs1057516312(-;-)

Make rs1057516312(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119531318

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516312
dbSNP (classic)	rs1057516312
ClinGen	rs1057516312
ebi	rs1057516312
HLI	rs1057516312
Exac	rs1057516312
Gnomad	rs1057516312
Varsome	rs1057516312
LitVar	rs1057516312
Map	rs1057516312
PheGenI	rs1057516312
Biobank	rs1057516312
1000 genomes	rs1057516312
hgdp	rs1057516312
ensembl	rs1057516312
geneview	rs1057516312
scholar	rs1057516312
google	rs1057516312
pharmgkb	rs1057516312
gwascentral	rs1057516312
openSNP	rs1057516312
23andMe	rs1057516312
SNPshot	rs1057516312
SNPdbe	rs1057516312
MSV3d	rs1057516312
GWAS Ctlg	rs1057516312

Max Magnitude

0

ClinVar
Risk	rs1057516312(-;-)
Alt	rs1057516312(-;-)
Reference	Rs1057516312(A;A)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118867013delA
CLNSRC
CLNACC	RCV000409725.1,