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rs116843064

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Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs116843064(A;A)
Make rs116843064(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position8364439
GeneANGPTL4
is asnp
is mentioned by
dbSNPrs116843064
ebirs116843064
HLIrs116843064
Exacrs116843064
Varsomers116843064
Maprs116843064
PheGenIrs116843064
hapmaprs116843064
1000 genomesrs116843064
hgdprs116843064
ensemblrs116843064
gopubmedrs116843064
geneviewrs116843064
scholarrs116843064
googlers116843064
pharmgkbrs116843064
gwascentralrs116843064
openSNPrs116843064
23andMers116843064
23andMe allrs116843064
SNP Nexus

SNPshotrs116843064
SNPdbers116843064
MSV3drs116843064
GWAS Ctlgrs116843064
GMAF0.01515
Max Magnitude0

rs116843064, also known as c.118G>A, p.Glu40Lys and E40K, represents a low frequency (~3%) variant in the ANGPTL4 gene on chromosome 19.

Studies about the effect of the E40K minor allele, rs116843064(A), are mixed:

  • In 2007, it was reported to be associated with lower plasma triglyceride levels and higher high density lipoprotein (HDL) [PMID 17322881OA-icon.png]
  • In 2009, though reported to be associated with low (therefore "good") triglyceride levels, it appeared actually increase risk of coronary heart disease by ~50% [PMID 18974381OA-icon.png]
  • In 2016, it was reported to be associated with lslightly lower risk for coronary artery disease (odds ratio 0.86) [PMID 26934567OA-icon.png]
OMIM605910
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116843064(A;A)
Alt rs116843064(A;A)
Reference rs116843064(G;G)
Significance Other
Disease Plasma triglyceride level quantitative trait locus
Variation info
Gene ANGPTL4
CLNDBN Plasma triglyceride level quantitative trait locus
Reversed 0
HGVS NC_000019.9:g.8429323G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004977.4,