Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
TOMM40 c.275-31A>G
(
ENST00000592434.5,
ENST00000426677.7,
ENST00000252487.9,
ENST00000405636.6 )
TOMM40 c.275-31A>G ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD.
- Pubmed
- 23326517
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.195200801439453
- Year of publication
- 2013
Drugs