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rs1051931

From SNPedia

Orientationplus
Stabilizedplus
Make rs1051931(A;A)
Make rs1051931(A;G)
Make rs1051931(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position46705206
GenePLA2G7
is asnp
is mentioned by
dbSNPrs1051931
ebirs1051931
HLIrs1051931
Exacrs1051931
Varsomers1051931
Maprs1051931
PheGenIrs1051931
hapmaprs1051931
1000 genomesrs1051931
hgdprs1051931
ensemblrs1051931
gopubmedrs1051931
geneviewrs1051931
scholarrs1051931
googlers1051931
pharmgkbrs1051931
gwascentralrs1051931
openSNPrs1051931
23andMers1051931
23andMe allrs1051931
SNP Nexus

SNPshotrs1051931
SNPdbers1051931
MSV3drs1051931
GWAS Ctlgrs1051931
GMAF0.2066
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 19135199OA-icon.png] Higher lipoprotein-associated phospholipase predicts cardiovascular disease rs2033547 rs1051931 rs10520358
OMIM601690
DescASTHMA AND ATOPY, SUSCEPTIBILITY TO
Variant0003
Relatedalso
asthma related
Neighborrs16874954
Distance4155


Venter snp
Source plos
Gene PLA2G7
allele G
frequency 0.8
sift TOLERATED
HuRef 1103652858683
Disease Association Defects in PLA2G7 are the cause of platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) (MIM:601690). It is a trait which is present in 27% of Japanese. It could have a significant physiologic effect in the presence of inflammatory bodily responses.



ClinVar
Risk rs1051931(G;G)
Alt rs1051931(G;G)
Reference rs1051931(A;A)
Significance Other
Disease Asthma and atopy not provided
Variation info
Gene PLA2G7
CLNDBN Asthma and atopy, susceptibility to not provided
Reversed 0
HGVS NC_000006.11:g.46672943A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008378.2, RCV000049574.1,



[PMID 18204052OA-icon.png] Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.


[PMID 18426996OA-icon.png] Relations of inflammatory biomarkers and common genetic variants with arterial stiffness and wave reflection.


[PMID 20442857OA-icon.png] Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.


[PMID 20479152OA-icon.png] PLA2G7 genotype, lipoprotein-associated phospholipase A2 activity, and coronary heart disease risk in 10 494 cases and 15 624 controls of European Ancestry.


[PMID 21834908] Association between lipoprotein-associated phospholipase A2 gene polymorphism and coronary artery disease in the Chinese Han population.


GET Evidence
PLA2G7-V379A
aa_change Val379Ala
aa_change_short V379A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.783231
summary



[PMID 23404648OA-icon.png] An association study between genetic polymorphisms related to lipoprotein-associated phospholipase A(2) and coronary heart disease.


[PMID 24732951] Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and cardiovascular events in patients with coronary artery disease