rs1057517323

Orientation

plus

Stabilized

plus

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

Make rs1057517323(-;GTGT)

Make rs1057517323(GTGT;GTGT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119525976

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057517323
dbSNP (classic)	rs1057517323
ClinGen	rs1057517323
ebi	rs1057517323
HLI	rs1057517323
Exac	rs1057517323
Gnomad	rs1057517323
Varsome	rs1057517323
LitVar	rs1057517323
Map	rs1057517323
PheGenI	rs1057517323
Biobank	rs1057517323
1000 genomes	rs1057517323
hgdp	rs1057517323
ensembl	rs1057517323
geneview	rs1057517323
scholar	rs1057517323
google	rs1057517323
pharmgkb	rs1057517323
gwascentral	rs1057517323
openSNP	rs1057517323
23andMe	rs1057517323
SNPshot	rs1057517323
SNPdbe	rs1057517323
MSV3d	rs1057517323
GWAS Ctlg	rs1057517323

Max Magnitude

0

ClinVar
Risk	rs1057517323(GTGT;GTGT)
Alt	rs1057517323(GTGT;GTGT)
Reference	Rs1057517323(-;-)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118861668_118861671dupGTGT
CLNSRC
CLNACC	RCV000410124.1,