Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894664
rs104894664
TTR
0.030 GeneticVariation BEFREE Herein we demonstrate that small-molecule tetramer stabilizers represent an attractive therapeutic strategy to inhibit A25T misfolding and CNS amyloidosis. 12649341

2003

dbSNP: rs104894664
rs104894664
TTR
0.030 GeneticVariation BEFREE A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation. 16690499

2006

dbSNP: rs104894664
rs104894664
TTR
0.030 GeneticVariation BEFREE Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid. 22091638

2011