Annotation Detail

Information
Associated Genes
APOE
Associated Variants
NC_000019.10:g.44905579T>G
NC_000019.10:g.44905579T>G
Associated Disease
arteriosclerosis
Source Database
DisGeNET
Description
This association is biologically plausible as SNP rs405509 was shown to modify protein binding and transcriptional activity of the APOE protein in vitro and is in linkage disequilibrium with key known variants defining the e2, e3, and e4 alleles that modify risk of atherosclerosis, Alzheimer's disease risk, and progression to AIDS.
Pubmed
19808960
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.207296000331334
Year of publication
2009
Drugs