rs121918068, TTR

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068 2017
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far. 17484624 2007