PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation BEFREE Phosphatase and actin regulator 1 rs9349379 polymorphism is associated with an elevated susceptibility to coronary artery disease: a meta-analysis. 31278837 2019
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation BEFREE The top variant, rs9349379, is intronic to PHACTR1, a risk locus for coronary artery disease, migraine, and cervical artery dissection. 27792790 2016
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
G 0.820 GeneticVariation GWASCAT Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
G 0.820 GeneticVariation GWASDB Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. 22745674 2012
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
G 0.820 GeneticVariation GWASCAT Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. 22745674 2012
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
G 0.820 GeneticVariation GWASDB Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
C 0.820 GeneticVariation GWASCAT Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
C 0.820 GeneticVariation GWASDB Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation GWASDB A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation GWASCAT A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. 21846871 2011
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation GWASDB A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. 21846871 2011
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0027051
Disease:
Myocardial Infarction
C 0.820 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0027051
Disease:
Myocardial Infarction
C 0.820 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0338480
Disease:
Common Migraine
A 0.810 GeneticVariation GWASCAT Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. 27322543 2016
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0338480
Disease:
Common Migraine
0.810 GeneticVariation BEFREE Significant heterogeneity of SNP effects (p het < 1.4 × 10(-3)) was observed between the MA and MO subgroups (for SNP rs9349379), and between the clinic- and population-based subgroups (for SNPs rs10915437, rs6790925 and rs6478241). 25179292 2015
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0338480
Disease:
Common Migraine
0.810 GeneticVariation GWASDB Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025 2013
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0149931
Disease:
Migraine Disorders
0.800 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0149931
Disease:
Migraine Disorders
A 0.800 GeneticVariation GWASCAT Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. 27322543 2016
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery
0.800 GeneticVariation GWASDB The second strongest association with CAC was with rs9349379 in the phosphatase and actin regulator 1 gene, PHACTR1, (Beta=0.30; 95% CI=0.22-0.40; p=4.67x10-11). 23394302 2013