rs1057517118

Orientation

plus

Stabilized

plus

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

Make rs1057517118(A;C)

Make rs1057517118(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119499315

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057517118
dbSNP (classic)	rs1057517118
ClinGen	rs1057517118
ebi	rs1057517118
HLI	rs1057517118
Exac	rs1057517118
Gnomad	rs1057517118
Varsome	rs1057517118
LitVar	rs1057517118
Map	rs1057517118
PheGenI	rs1057517118
Biobank	rs1057517118
1000 genomes	rs1057517118
hgdp	rs1057517118
ensembl	rs1057517118
geneview	rs1057517118
scholar	rs1057517118
google	rs1057517118
pharmgkb	rs1057517118
gwascentral	rs1057517118
openSNP	rs1057517118
23andMe	rs1057517118
SNPshot	rs1057517118
SNPdbe	rs1057517118
MSV3d	rs1057517118
GWAS Ctlg	rs1057517118

Max Magnitude

0

ClinVar
Risk	rs1057517118(C;C)
Alt	rs1057517118(C;C)
Reference	Rs1057517118(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.118835010A>C
CLNSRC
CLNACC	RCV000411180.1,