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rs1805018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs1805018(C;C)
Make rs1805018(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position46711566
GenePLA2G7
is asnp
is mentioned by
dbSNPrs1805018
ebirs1805018
HLIrs1805018
Exacrs1805018
Varsomers1805018
Maprs1805018
PheGenIrs1805018
hapmaprs1805018
1000 genomesrs1805018
hgdprs1805018
ensemblrs1805018
gopubmedrs1805018
geneviewrs1805018
scholarrs1805018
googlers1805018
pharmgkbrs1805018
gwascentralrs1805018
openSNPrs1805018
23andMers1805018
23andMe allrs1805018
SNP Nexus

SNPshotrs1805018
SNPdbers1805018
MSV3drs1805018
GWAS Ctlgrs1805018
GMAF0.1281
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM601690
DescASTHMA AND ATOPY, SUSCEPTIBILITY TO
Variant0002
Relatedalso
asthma related


Venter snp
Source plos
Gene PLA2G7
allele G
frequency 0.075
sift TOLERATED
HuRef 1103652858691
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 rs1805018(C;C)
Alt rs1805018(C;C)
Reference rs1805018(T;T)
Significance Other
Disease Asthma and atopy
Variation info
Gene PLA2G7
CLNDBN Asthma and atopy, susceptibility to
Reversed 1
HGVS NC_000006.11:g.46679303A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008377.2,



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


GET Evidence
PLA2G7-I198T
aa_change Ile198Thr
aa_change_short I198T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.105503
summary



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