Gene: LPL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation BEFREE In summary, we describe a case of familial LPL deficiency caused by compound heterozygosity for known (G188E) and novel (W394X) LPL gene mutations. 18275685

2008
dbSNP: rs118204057
rs118204057
LPL
0.860 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
LPL
0.860 GeneticVariation UNIPROT Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202

2005
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis. 12641539

2003
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. 12204001

2002
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia. 11099402

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation BEFREE These results add the Gly188Glu mutation to the growing list of LPL gene mutations underlying familial LPL deficiency in Japanese and indicate that the origin of the Gly188Glu mutation is not necessarily common but would be multicentric at least in part. 11425044

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23. 10787434

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. 11068186

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation BEFREE Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese. 10481930

1999
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Assessment of French patients with LPL deficiency for French Canadian mutations. 9279761

1997
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation BEFREE Heterozygous lipoprotein lipase deficiency due to the Gly188-->Glu substitution appears to increase plasma triglycerides and reduce HDL levels and may thereby predispose carriers to ischemic heart disease. 9323055

1997
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. 8956052

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia. 8956048

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. 8778602

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation BEFREE It has previously been estimated that due to genetic "founder effects," 97% of lipoprotein lipase (LPL) gene alleles conferring type I hyperlipoproteinemia (HLP) in French Canadians encode one of the following mutant LPL forms: Gly188-->Glu, Pro207-->Leu, or Asp250-->Asn. 7706936

1995
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 8135797

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 7906986

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia. 7806969

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 8325986

1993
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). 8288243

1993
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 1400331

1992
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 1598907

1992
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. 1674945

1991