PTAFR, platelet activating factor receptor, 5724

N. diseases: 96; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1629168
rs1629168
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs6679420
rs6679420
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs6679420
rs6679420
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1053983726
rs1053983726
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE PAFR is overexpressed, as compared to age matched controls, in the spinal cords of transgenic ALS SOD1-G93A mice, suggesting PAF mediation. 29472887 2018
dbSNP: rs313152
rs313152
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0005750
Disease:
Blind Loop Syndrome 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs313152
rs313152
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs313152
rs313152
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE The PAFR gene rs5938 or rs313152 polymorphisms might be a potential biomarker for susceptibility to CHD, especially to BSS of CHD in Chinese Han population. 28197937 2017
dbSNP: rs313152
rs313152
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs5938
rs5938
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0010054
Disease:
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs5938
rs5938
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0005750
Disease:
Blind Loop Syndrome 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs5938
rs5938
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population. 28197937 2017
dbSNP: rs5938
rs5938
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE The PAFR gene rs5938 or rs313152 polymorphisms might be a potential biomarker for susceptibility to CHD, especially to BSS of CHD in Chinese Han population. 28197937 2017
dbSNP: rs76744145
rs76744145
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE To explore the association of the platelet-activating factor receptor (PAFR) gene rs5938, rs313152 and rs76744145 polymorphisms with coronary heart disease (CHD) and blood stasis syndrome (BSS) of CHD in Chinese Han population. 28197937 2017
dbSNP: rs5938
rs5938
Entrez Id: 5724
Gene Symbol: PTAFR
PTAFR
CUI: C0026769
Disease:
Multiple Sclerosis 		0.010 GeneticVariation BEFREE We evaluated the association of the platelet-activating factor receptor (PAFR) gene polymorphism (A224D) with the susceptibility and severity of multiple sclerosis (MS) in a Japanese population. 15748960 2005