Gene: TTR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555631390
rs1555631390
TTR
GTGAGTC 0.700 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018
dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation. 25060417

2014
dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE FAP with Val30Met mutation in Ishikawa was characterized by late onset, high penetrance, and moderate autonomic dysfunction. 18410945

2008