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: rs748743403
rs748743403
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 		T 0.800 CausalMutation CLINVAR
dbSNP: rs748743403
rs748743403
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 		0.800 GeneticVariation UNIPROT
dbSNP: rs1562103192
rs1562103192
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 		T 0.700 CausalMutation CLINVAR
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: 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: 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: rs1332844
rs1332844
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs1332844
rs1332844
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASDB A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 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: 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: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery 		A 0.800 GeneticVariation GWASCAT 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: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1611184
Disease:
Calcification of coronary artery 		A 0.800 GeneticVariation GWASDB 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: 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: 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: 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: 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: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0149931
Disease:
Migraine Disorders 		0.800 GeneticVariation GWASCAT Genome-wide association analysis identifies susceptibility loci for migraine without aura. 22683712 2012
dbSNP: rs9349379
rs9349379
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C0149931
Disease:
Migraine Disorders 		0.800 GeneticVariation GWASDB Genome-wide association analysis identifies susceptibility loci for migraine without aura. 22683712 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