rs121918079, TTR

N. diseases: 10
Disease: Kidney Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy. 17701470 2007