Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Premature coronary artery atherosclerosis
0.020 GeneticVariation BEFREE Carriers for the ABCC6 R1141X mutation, which is frequent and confers a high risk of premature coronary artery disease, do not commonly have skin or eye abnormalities consistent with a mild PXE phenotype. 15837081 2005
Premature coronary artery atherosclerosis
0.020 GeneticVariation BEFREE To assess the relationship between the frequent R1141X mutation in the ABCC6 gene and the prevalence of premature coronary artery disease (CAD), we conducted a case-control study of 441 patients under the age of 50 years who had definite CAD and 1057 age- and sex-matched population-based controls who were free of coronary disease. 12176944 2002