rs1057517152

Orientation

plus

Stabilized

plus

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

Make rs1057517152(-;-)

Make rs1057517152(-;GTAAA)

Make rs1057517152(GTAAA;GTAAA)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119531347

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057517152
dbSNP (classic)	rs1057517152
ClinGen	rs1057517152
ebi	rs1057517152
HLI	rs1057517152
Exac	rs1057517152
Gnomad	rs1057517152
Varsome	rs1057517152
LitVar	rs1057517152
Map	rs1057517152
PheGenI	rs1057517152
Biobank	rs1057517152
1000 genomes	rs1057517152
hgdp	rs1057517152
ensembl	rs1057517152
geneview	rs1057517152
scholar	rs1057517152
google	rs1057517152
pharmgkb	rs1057517152
gwascentral	rs1057517152
openSNP	rs1057517152
23andMe	rs1057517152
SNPshot	rs1057517152
SNPdbe	rs1057517152
MSV3d	rs1057517152
GWAS Ctlg	rs1057517152

Max Magnitude

0

ClinVar
Risk	rs1057517152(-;-)
Alt	rs1057517152(-;-)
Reference	Rs1057517152(AAAGT;AAAGT)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118867042_118867046delGTAAA
CLNSRC
CLNACC	RCV000411080.1,