Annotation Detail

Information
Associated Genes
APOE
Associated Variants
TOMM40 c.275-31A>G ( ENST00000592434.5, ENST00000426677.7, ENST00000252487.9, ENST00000405636.6 )
rs3865444
CR1 c.488-4907A>G ( ENST00000367053.6, ENST00000367051.6, ENST00000367052.6, ENST00000367049.9, ENST00000400960.7 )
CR1 c.6296-54A>G ( ENST00000367053.6, ENST00000367049.9, ENST00000367052.6, ENST00000400960.7, ENST00000367051.6 )
rs7561528
TOMM40 c.275-31A>G ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
rs3865444
CR1 c.488-4907A>G ( ENST00000367049.9, ENST00000367051.6, ENST00000367052.6, ENST00000367053.6, ENST00000400960.7 )
CR1 c.6296-54A>G ( ENST00000367049.9, ENST00000367051.6, ENST00000367052.6, ENST00000367053.6, ENST00000400960.7 )
rs7561528
Associated Disease
Impaired cognition
Source Database
DisGeNET
Description
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive impairment (n = 524) revealed a significant association of rs6656401 and rs3818361 (CR1), rs2075650 (TOMM40), rs7561528 (BIN1), and rs3865444 (CD33) with late-onset AD that were robust to adjustment with age and apolipoprotein E ε4 genotype.
Pubmed
24176626
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.199576075781247
Year of publication
2013
Drugs