Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204076
rs118204076
LPL
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204076
rs118204076
LPL
0.810 GeneticVariation BEFREE 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: rs118204076
rs118204076
LPL
G 0.810 CausalMutation CLINVAR