rs121918098, TTR

N. diseases: 7
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 It is perplexing that D18G does not lead to severe early onset systemic amyloidosis, given that it is the most destabilized TTR variant characterized to date, more so than variants exhibiting onset in the second decade. 12779320 2003