A Manually Curated Knowledgebase of Aging across a variety of Species

Details


Name rs2070935
Type SNP
Species Homo sapiens
Tissue blood samples
Experiment Method qPCR
Up/Down NA
Pro/Anti Pro
Funtion Description We analyzed the SNP in 10 patients with late-onset alexander disease and evaluated the effects of the SNP on the clinical course of late-onset alexander disease. Three of four cases with the C/C genotype lost the ability to walk in their 30s or 40s, where
Regulation Gene GFAP
Year 2013
Pubmed ID 23903069
Title Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease
Drug NA
Disease alexander disease
Environment Factors NA
Circulating 1
Variant SNP
High-throughput NA