rs12526453, PHACTR1

N. diseases: 5
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
0.820 GeneticVariation BEFREE Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). 28287809 2017
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.820 GeneticVariation BEFREE The rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) showed, in 2 independent samples, better long-term survival. 26086777 2015
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.820 GeneticVariation BEFREE Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs3825807, P = 6.5 × 10(-6)) and at PHACTR1 (rs12526453, P = 1.0 × 10(-3)) show a nominally significant association with coronary artery calcification with MI/CAD risk alleles increasing the degree of arterial calcification. 23561647 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation BEFREE Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002). 22152955 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASCAT Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASDB Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.820 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.820 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects. 29784573 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE Our results showed that the polymorphisms rs1252</span>6453 and rs11066301 are significantly associated with the CAD risk in multiple populations. 25123136 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs3825807, P = 6.5 × 10(-6)) and at PHACTR1 (rs12526453, P = 1.0 × 10(-3)) show a nominally significant association with coronary artery calcification with MI/CAD risk alleles increasing the degree of arterial calcification. 23561647 2013
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects. 29784573 2019
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.010 GeneticVariation BEFREE In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects. 29784573 2019