rs267607161, TTR

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.030 GeneticVariation BEFREE Ala97Ser (A97S) is the major transthyretin (TTR) mutation in Taiwanese patients of familial amyloid polyneuropathy (FAP), characterized by a late-onset but rapidly deteriorated neuropathy. 31502419 2019
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.030 GeneticVariation BEFREE There were 28 patients (25 men) with Ala97Ser transthyretin and late onset (59.9 ± 6.0 years) disabling neuropathy. 25973863 2015
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.030 GeneticVariation BEFREE There were 19 unrelated patients with Ala97Ser manifesting a late-onset (59.47 +/- 5.70 years) generalized neuropathy with disabling motor, sensory, and autonomic symptoms. 20697105 2010