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rs76863441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76863441(A;A)
Make rs76863441(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position46709361
GenePLA2G7
is asnp
is mentioned by
dbSNPrs76863441
dbSNP (classic)rs76863441
ClinGenrs76863441
ebirs76863441
HLIrs76863441
Exacrs76863441
Gnomadrs76863441
Varsomers76863441
LitVarrs76863441
Maprs76863441
PheGenIrs76863441
Biobankrs76863441
1000 genomesrs76863441
hgdprs76863441
ensemblrs76863441
geneviewrs76863441
scholarrs76863441
googlers76863441
pharmgkbrs76863441
gwascentralrs76863441
openSNPrs76863441
23andMers76863441
SNPshotrs76863441
SNPdbers76863441
MSV3drs76863441
GWAS Ctlgrs76863441
Merged fromRs16874954
GMAF0.02984
Max Magnitude0
OMIM601690
Desc
Variant0001
Relatedalso
ClinVar
Risk rs76863441(A;A)
Alt rs76863441(A;A)
Reference Rs76863441(C;C)
Significance Pathogenic
Disease Platelet-activating factor acetylhydrolase deficiency
Variation info
Gene PLA2G7
CLNDBN Platelet-activating factor acetylhydrolase deficiency
Reversed 0
HGVS NC_000006.11:g.46677098C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008376.3,


? (A;A) (A;C) (C;C)


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