Annotation Detail
Information
- Associated Genes
- C9orf72
- Associated Variants
-
rs1990622
rs1990622 - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
- Pubmed
- 24442578
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0428878157886879
- Year of publication
- 2013
Drugs