Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918068
rs121918068
TTR
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

dbSNP: rs121918068
rs121918068
TTR
0.020 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068

2017