rs1057517217

Orientation

plus

Stabilized

plus

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

Make rs1057517217(C;T)

Make rs1057517217(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119493820

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057517217
dbSNP (classic)	rs1057517217
ClinGen	rs1057517217
ebi	rs1057517217
HLI	rs1057517217
Exac	rs1057517217
Gnomad	rs1057517217
Varsome	rs1057517217
LitVar	rs1057517217
Map	rs1057517217
PheGenI	rs1057517217
Biobank	rs1057517217
1000 genomes	rs1057517217
hgdp	rs1057517217
ensembl	rs1057517217
geneview	rs1057517217
scholar	rs1057517217
google	rs1057517217
pharmgkb	rs1057517217
gwascentral	rs1057517217
openSNP	rs1057517217
23andMe	rs1057517217
SNPshot	rs1057517217
SNPdbe	rs1057517217
MSV3d	rs1057517217
GWAS Ctlg	rs1057517217

Max Magnitude

0

ClinVar
Risk	rs1057517217(T;T)
Alt	rs1057517217(T;T)
Reference	Rs1057517217(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.118829515C>T
CLNSRC
CLNACC	RCV000409273.1,