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rs16874954

From SNPedia

Merged intors76863441
Orientationplus
Stabilizedplus
Make rs16874954(A;A)
Make rs16874954(A;C)
Make rs16874954(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position46709361
GenePLA2G7
is asnp
is mentioned by
dbSNPrs16874954
ebirs16874954
HLIrs16874954
Exacrs16874954
Varsomers16874954
Maprs16874954
PheGenIrs16874954
hapmaprs16874954
1000 genomesrs16874954
hgdprs16874954
ensemblrs16874954
gopubmedrs16874954
geneviewrs16874954
scholarrs16874954
googlers16874954
pharmgkbrs16874954
gwascentralrs16874954
openSNPrs16874954
23andMers16874954
23andMe allrs16874954
SNP Nexus

SNPshotrs16874954
SNPdbers16874954
MSV3drs16874954
GWAS Ctlgrs16874954
StatusMerged into rs76863441
Max Magnitude
OMIM601690
DescPLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Variant0001
Relatedalso
Neighborrs1051931
Distance4155
? (A;A) (A;C) (C;C)

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


GET Evidence
PLA2G7-V279F
aa_change Val279Phe
aa_change_short V279F
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0234375
summary This variant causes PAF acetylhydrolase deficiency and affects 4% of Japanese. It is associated with heightened risk of stroke and asthma and lower risk for cardiovascular disease.