rs1057517045

Orientation

plus

Stabilized

plus

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

Make rs1057517045(-;-)

Make rs1057517045(-;GATA)

Make rs1057517045(GATA;GATA)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119506856

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057517045
dbSNP (classic)	rs1057517045
ClinGen	rs1057517045
ebi	rs1057517045
HLI	rs1057517045
Exac	rs1057517045
Gnomad	rs1057517045
Varsome	rs1057517045
LitVar	rs1057517045
Map	rs1057517045
PheGenI	rs1057517045
Biobank	rs1057517045
1000 genomes	rs1057517045
hgdp	rs1057517045
ensembl	rs1057517045
geneview	rs1057517045
scholar	rs1057517045
google	rs1057517045
pharmgkb	rs1057517045
gwascentral	rs1057517045
openSNP	rs1057517045
23andMe	rs1057517045
SNPshot	rs1057517045
SNPdbe	rs1057517045
MSV3d	rs1057517045
GWAS Ctlg	rs1057517045

Max Magnitude

0

ClinVar
Risk	rs1057517045(-;-)
Alt	rs1057517045(-;-)
Reference	Rs1057517045(TAGA;TAGA)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118842551_118842554delGATA
CLNSRC
CLNACC	RCV000409513.1,