Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57920071
rs57920071
LMNA
0.020 GeneticVariation BEFREE The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis. 29438482

2018
dbSNP: rs57920071
rs57920071
LMNA
0.020 GeneticVariation BEFREE Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. 23846499

2013