LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hypertriglyceridemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204057
rs118204057
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.030 GeneticVariation BEFREE She was a compound heterozygote for a p.G236Gfs*15 deletion and a p.G215E missense mutation at LPL, as was one sister with hypertriglyceridemia and pancreatitis during pregnancy. 30352774 2020
dbSNP: rs118204057
rs118204057
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.030 GeneticVariation BEFREE In Eastern Québec, two major lipoprotein lipase (LPL) gene mutations, P207L and G188E, lead to complete LPL deficiency in homozygote subjects and contribute to elevated predisposition to hypertriglyceridemia in heterozygotes. 16630553 2006
dbSNP: rs118204057
rs118204057
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.030 GeneticVariation BEFREE The two CAD patients heterozygous for the LPL(Gly188-->Glu) mutation, however, had hypertriglyceridemia and low plasma high density lipoprotein levels. 9627528 1998