Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917821
rs121917821
ZPR1 ; APOA5
0.710 GeneticVariation BEFREE Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213

2005
dbSNP: rs121917821
rs121917821
ZPR1 ; APOA5
A 0.710 CausalMutation CLINVAR

dbSNP: rs777046568
rs777046568
ZPR1 ; APOA5
0.010 GeneticVariation BEFREE We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. 27678447

2017
dbSNP: rs121918393
rs121918393
APOE
0.010 GeneticVariation BEFREE Dietary fat clearance in type V hyperlipoproteinaemia secondary to a rare variant of human apolipoprotein E: the apolipoprotein E3 (Arg 136-->Ser) 10911769

2000