Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356726
rs80356726
TARDBP
0.010 GeneticVariation BEFREE TAR DNA binding protein 43 (TDP-43) A315T mutation (TDP-43(A315T)) has been found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) as a disease causing mutation with enhanced protein aggregation, formation of protease-resistant fragments, and neurotoxicity. 26327808

2015