rs1057516269

Orientation

plus

Stabilized

plus

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

Make rs1057516269(C;G)

Make rs1057516269(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119496546

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516269
dbSNP (classic)	rs1057516269
ClinGen	rs1057516269
ebi	rs1057516269
HLI	rs1057516269
Exac	rs1057516269
Gnomad	rs1057516269
Varsome	rs1057516269
LitVar	rs1057516269
Map	rs1057516269
PheGenI	rs1057516269
Biobank	rs1057516269
1000 genomes	rs1057516269
hgdp	rs1057516269
ensembl	rs1057516269
geneview	rs1057516269
scholar	rs1057516269
google	rs1057516269
pharmgkb	rs1057516269
gwascentral	rs1057516269
openSNP	rs1057516269
23andMe	rs1057516269
SNPshot	rs1057516269
SNPdbe	rs1057516269
MSV3d	rs1057516269
GWAS Ctlg	rs1057516269

Max Magnitude

0

ClinVar
Risk	rs1057516269(G;G)
Alt	rs1057516269(G;G)
Reference	Rs1057516269(C;C)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118832241C>G
CLNSRC
CLNACC	RCV000410643.1,