rs72653706, ABCC6

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.050 GeneticVariation BEFREE Previous studies have suggested that carriers of the ABCC6 mutations, particularly of p.R1141X, are at increased risk for coronary artery disease. 23807484 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.050 GeneticVariation BEFREE The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. 19929409 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.050 GeneticVariation BEFREE A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene. 16854481 2007
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.050 GeneticVariation BEFREE Mutations in the ABCC6 gene could be linked to this disease and, just recently, the c.3421C>T mutation was also associated with a high risk of coronary artery disease. 14631379 2004
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.050 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