Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11264581
rs11264581
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0032181
Disease:
Platelet Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs12137505
rs12137505
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs145662369
rs145662369
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs146377491
rs146377491
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs77795865
rs77795865
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2768744
rs2768744
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs12566888
rs12566888
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0032176
Disease:
Platelet aggregation
A 0.700 GeneticVariation GWASDB Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. 20526338 2010
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Previous reports implicate PEAR1 rs12041331 as a variant influencing risk in patients with coronary heart disease. 28449647 2017
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE Previous reports implicate PEAR1 rs12041331 as a variant influencing risk in patients with coronary heart disease. 28449647 2017
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE Previous reports implicate PEAR1 rs12041331 as a variant influencing risk in patients with coronary heart disease. 28449647 2017
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE A common genetic variant in PEAR1 (rs12041331) reproducibly influenced platelet aggregation in aspirin-treated patients with coronary artery disease. 25360888 2014
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE A common genetic variant in PEAR1 (rs12041331) reproducibly influenced platelet aggregation in aspirin-treated patients with coronary artery disease. 25360888 2014
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE A common genetic variant in PEAR1 (rs12041331) reproducibly influenced platelet aggregation in aspirin-treated patients with coronary artery disease. 25360888 2014
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1842937
Disease:
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE This study suggests for the first time that PEAR1 polymorphisms did not indicate susceptibility for KD occurrence but the rs12041331 polymorphism was associated with increased risk of CAA formation in KD, and the functions of the gene warrant further research. 30256383 2019
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0010051
Disease:
Coronary Aneurysm
0.010 GeneticVariation BEFREE A PEAR1 polymorphism (rs12041331) is associated with risk of coronary artery aneurysm in Kawasaki disease. 30256383 2019
dbSNP: rs12041331
rs12041331
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome
0.010 GeneticVariation BEFREE No significant differences in the frequency of rs12566888 or rs12041331 in PEAR1 were observed between KD and healthy controls. 30256383 2019
dbSNP: rs12566888
rs12566888
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1842937
Disease:
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE However, regardless of the statistical combination of rs12566888 genotype, the rs12041331 recessive inheritance model was associated with an increased risk of CAA after Bonferroni correction (for rs12041331, AA vs. GG/GA: adjusted OR = 2.37, 95% CI = 1.41-4.01, P = 0.009; combination of two recessive genotypes vs. combination of 0-1 recessive genotypes: adjusted OR = 2.39, 95% CI = 1.42-4.04, P = 0.009). 30256383 2019
dbSNP: rs12566888
rs12566888
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE <b>Methods:</b> In 582 consecutive patients with stable coronary artery disease (CAD) or acute coronary syndrome (ACS) scheduled for PCI and treated with ASA and Clopidogrel, Prasugrel, or Ticagrelor, SNP analysis for rs12566888, rs2768759, rs41273215, rs3737224, and rs822442 was performed. 29867494 2018
dbSNP: rs12566888
rs12566888
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE <b>Methods:</b> In 582 consecutive patients with stable coronary artery disease (CAD) or acute coronary syndrome (ACS) scheduled for PCI and treated with ASA and Clopidogrel, Prasugrel, or Ticagrelor, SNP analysis for rs12566888, rs2768759, rs41273215, rs3737224, and rs822442 was performed. 29867494 2018
dbSNP: rs12566888
rs12566888
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE <b>Methods:</b> In 582 consecutive patients with stable coronary artery disease (CAD) or acute coronary syndrome (ACS) scheduled for PCI and treated with ASA and Clopidogrel, Prasugrel, or Ticagrelor, SNP analysis for rs12566888, rs2768759, rs41273215, rs3737224, and rs822442 was performed. 29867494 2018
dbSNP: rs3737224
rs3737224
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE <b>Methods:</b> In 582 consecutive patients with stable coronary artery disease (CAD) or acute coronary syndrome (ACS) scheduled for PCI and treated with ASA and Clopidogrel, Prasugrel, or Ticagrelor, SNP analysis for rs12566888, rs2768759, rs41273215, rs3737224, and rs822442 was performed. 29867494 2018
dbSNP: rs3737224
rs3737224
Entrez Id: 375033
Gene Symbol: PEAR1
PEAR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE <b>Methods:</b> In 582 consecutive patients with stable coronary artery disease (CAD) or acute coronary syndrome (ACS) scheduled for PCI and treated with ASA and Clopidogrel, Prasugrel, or Ticagrelor, SNP analysis for rs12566888, rs2768759, rs41273215, rs3737224, and rs822442 was performed. 29867494 2018