rs116843064

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common on affy axiom data

Make rs116843064(A;A)

Make rs116843064(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

8364439

Gene

ANGPTL4

is a	snp
is	mentioned by
dbSNP	rs116843064
dbSNP (classic)	rs116843064
ClinGen	rs116843064
ebi	rs116843064
HLI	rs116843064
Exac	rs116843064
Gnomad	rs116843064
Varsome	rs116843064
LitVar	rs116843064
Map	rs116843064
PheGenI	rs116843064
Biobank	rs116843064
1000 genomes	rs116843064
hgdp	rs116843064
ensembl	rs116843064
geneview	rs116843064
scholar	rs116843064
google	rs116843064
pharmgkb	rs116843064
gwascentral	rs116843064
openSNP	rs116843064
23andMe	rs116843064
SNPshot	rs116843064
SNPdbe	rs116843064
MSV3d	rs116843064
GWAS Ctlg	rs116843064

GMAF

0.01515

Max Magnitude

0

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 17322881]
• 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 18974381]
• In 2016, it was reported to be associated with lslightly lower risk for coronary artery disease (odds ratio 0.86) [PMID 26934567]

OMIM	605910
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004977.4,

[PMID 32534714] Association of a genetic variant in the angiopoietin-like protein 4 gene with cervical cancer.