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rs1805017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1805017(A;A)
Make rs1805017(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position46716485
GenePLA2G7
is asnp
is mentioned by
dbSNPrs1805017
ebirs1805017
HLIrs1805017
Exacrs1805017
Varsomers1805017
Maprs1805017
PheGenIrs1805017
hapmaprs1805017
1000 genomesrs1805017
hgdprs1805017
ensemblrs1805017
gopubmedrs1805017
geneviewrs1805017
scholarrs1805017
googlers1805017
pharmgkbrs1805017
gwascentralrs1805017
openSNPrs1805017
23andMers1805017
23andMe allrs1805017
SNP Nexus

SNPshotrs1805017
SNPdbers1805017
MSV3drs1805017
GWAS Ctlgrs1805017
GMAF0.2525
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene PLA2G7
allele T
frequency 0.22
sift TOLERATED
HuRef 1103652858688
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.



GWAS snp
PMID [PMID 20442857OA-icon.png]
Trait Lipoprotein-associated phospholipase A2 activity and mass
Title Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study
Risk Allele T
P-val 6E-14
Odds Ratio 11.10 [NR] ng/mL increase
GWAS snp
PMID [PMID 22003152OA-icon.png]
Trait
Title Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
Risk Allele T
P-val 2E-23
Odds Ratio 0.0430 None


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


GET Evidence
PLA2G7-R92H
aa_change Arg92His
aa_change_short R92H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.266871
summary



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


ClinVar
Risk rs1805017(A;A)
Alt rs1805017(A;A)
Reference rs1805017(G;G)
Significance Untested
Disease not provided
Variation info
Gene PLA2G7
CLNDBN not provided
Reversed 1
HGVS NC_000006.11:g.46684222C>T
CLNSRC ClinVar
CLNACC RCV000049573.1,



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