rs28933979, TTR

N. diseases: 70
Disease: Primary Systemic Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
0.010 GeneticVariation BEFREE Type I familial amyloidotic polyneuropathy (FAP), a systemic amyloidosis, is characterized by aggregation of variant transthyretin (TTR Val30Met) into stable, insoluble fibrils. 14695346 2004