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: C1956346
Disease:
Coronary Artery Disease 		0.760 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: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.760 GeneticVariation BEFREE Our study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population. 30777881 2019
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.760 GeneticVariation BEFREE Our meta-analysis suggested that rs9349379 polymorphism might affect individual susceptibility to CAD in both Caucasians and Asians. 31278837 2019
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.730 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
dbSNP: rs12526453
rs12526453
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
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
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0027051
Disease:
Myocardial Infarction 		0.710 GeneticVariation BEFREE Genome-wide significant associations with CAC for SNPs on chromosome 9p21 near CDKN2A and CDKN2B (top SNP: rs1333049; P=7.58×10(-19)) and 6p24 (top SNP: rs9349379, within the PHACTR1 gene; P=2.65×10(-11)) replicated for CAC and for MI. 22144573 2011
dbSNP: rs10807323
rs10807323
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery 		0.700 GeneticVariation GWASDB Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. 22144573 2011
dbSNP: rs1562114406
rs1562114406
Entrez Id: 51256;221692;100130357;107080638
Gene Symbol: TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
CUI: C4749023
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.700 CausalMutation CLINVAR
dbSNP: rs17802893
rs17802893
Entrez Id: 221692;107984015
Gene Symbol: PHACTR1;LOC107984015
PHACTR1;LOC107984015
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2026458
rs2026458
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery 		0.700 GeneticVariation GWASDB Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. 22144573 2011
dbSNP: rs4615376
rs4615376
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C3158111
Disease:
response to SSRI 		0.700 GeneticVariation GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
dbSNP: rs4615376
rs4615376
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1269683
Disease:
Major Depressive Disorder 		0.700 GeneticVariation GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
dbSNP: rs4711863
rs4711863
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery 		0.700 GeneticVariation GWASDB Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. 22144573 2011
dbSNP: rs4714955
rs4714955
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs4714955
rs4714955
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0038454
Disease:
Cerebrovascular accident 		0.700 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9369640
rs9369640
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs9369640
rs9369640
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1842247
Disease:
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		0.700 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
dbSNP: rs9395520
rs9395520
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2026458
rs2026458
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.020 GeneticVariation BEFREE A similar genotype distribution of rs2026458 was observed in both groups; however, under an additive model adjusted by age, body mass index, type 2 diabetes mellitus, smoking, dyslipidemia, and hypertension, the rs9349379 G allele was associated with a higher risk for developing premature CAD (odds ratio (OR) = 1.22, 95% confidence interval (CI) = 1.03-1.46, p-value (p) = 0.024). 27517945 2016
dbSNP: rs2026458
rs2026458
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.020 GeneticVariation BEFREE The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). 30777881 2019
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE Either of these pathophysiological actions may explain a hypertensive role of ET-1 despite a lower risk of hypertension associated with the G allele at rs9349379, the common SNP in the PHACTR1 gene that is a distal regulator of EDN1 and leads to an increased expression of ET-1. 29448245 2018
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.020 GeneticVariation BEFREE The top variant, rs9349379, is intronic to PHACTR1, a risk locus for coronary artery disease, migraine, and cervical artery dissection. 27792790 2016