PLA2G7, phospholipase A2 group VII, 7941

N. diseases: 136; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension. 9759612 1998
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men. 9472966 1998
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 9412624 1997
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation. 9245731 1997
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 8675689 1996
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
A 0.760 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE Causal risk ratios for coronary heart disease per 65% lower Lp-PLA<sub>2</sub> activity were: 0.95 (0.88-1.03) with Val279Phe; 0.92 (0.74-1.16) with carriage of any loss-of-function variant; 1.01 (0.68-1.51) with Val379Ala; and 0.95 (0.89-1.02) with darapladib treatment. 27940953 2017
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE RH + HH genotype, RH genotype, and H allele of R92H were significantly associated with an increased risk of CHD (P = 0.005, P = 0.009, and P = 0.003, respectively), while no associations were observed between V279F and I198T and CHD (A379V was not analyzed because of deviation from Hardy-Weinberg equilibrium). 25690150 2015
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE Carriage of the V279F null allele within the gene encoding Lp-PLA₂ is protective from coronary artery disease in South Korean males. 21490708 2011
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE These data suggested that the V279F polymorphism in LP-PLA2 gene may contribute to CHD development. 21107710 2011
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE The results indicate 92H allele had probably increased the risk of CHD, while the hypothesized effects of A379V and V279F polymorphisms on CHD cannot be confirmed in present data. 20926117 2010
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.760 GeneticVariation BEFREE Both single SNP analysis and haplotype analysis showed that the V279F and I198T polymorphisms were significantly associated with the reduced Lp-PLA(2) activity, but neither was associated with increased CHD risk. 19034521 2009
dbSNP: rs76863441
rs76863441
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0948089
Disease:
Acute Coronary Syndrome
A 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs201256712
rs201256712
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.700 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension. 9759612 1998
dbSNP: rs201256712
rs201256712
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.700 GeneticVariation UNIPROT Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men. 9472966 1998
dbSNP: rs201256712
rs201256712
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.700 GeneticVariation UNIPROT Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation. 9245731 1997
dbSNP: rs201256712
rs201256712
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.700 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 9412624 1997
dbSNP: rs201256712
rs201256712
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
0.700 GeneticVariation UNIPROT Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 8675689 1996
dbSNP: rs1051931
rs1051931
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C4016754
Disease:
ASTHMA AND ATOPY, SUSCEPTIBILITY TO
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1805018
rs1805018
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C4016754
Disease:
ASTHMA AND ATOPY, SUSCEPTIBILITY TO
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs201899866
rs201899866
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs201899866
rs201899866
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C3280315
Disease:
Platelet-Activating Factor Acetylhydrolase Deficiency
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1051931
rs1051931
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7
CUI: C0010068
Disease:
Coronary heart disease
0.040 GeneticVariation BEFREE CHD risks were higher in carriers of homozygous mutant of rs1805017 and rs1805018 than those with wild-type homozygotes, OR (95% CI) were 1.45 (1.16-1.92) and 1.51 (1.23-1.97), respectively, but the other two SNPs, rs16874954 and rs1051931 were not significant associated with CHD risks. 29728838 2018