Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204072
rs118204072
LPL
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204072
rs118204072
LPL
0.810 GeneticVariation BEFREE In vitro mutagenesis revealed that the Ser172-->Cys mutation caused a mutant LPL protein that had residual activity higher than that seen in all eight other missense mutations in patients with LPL deficiency identified in our laboratory. 8486765

1993
dbSNP: rs118204072
rs118204072
LPL
G 0.810 CausalMutation CLINVAR