Annotation Detail

Information
Associated Genes
TOMM40
Associated Variants
TOMM40 c.275-31A>G ( ENST00000592434.5, ENST00000426677.7, ENST00000252487.9, ENST00000405636.6 )
rs3865444
TOMM40 c.275-31A>G ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
rs3865444
Associated Disease
Impaired cognition
Source Database
DisGeNET
Description
The incident case study comparing patients who developed AD during longitudinal observation (n = 152) with participants with no cognitive impairment found that rs2075650 (TOMM40) and rs3865444 (CD33) influence the risk of developing AD in this population.
Pubmed
24176626
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.12027144187208
Year of publication
2013
Drugs