rs121918079, TTR

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
0.010 GeneticVariation BEFREE This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene. 28272196 2017