rs121909210, TGFBI

N. diseases: 15
Disease: Amyloid of cornea ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloid of cornea
CUI: C2939149
Disease: Amyloid of cornea
0.010 GeneticVariation BEFREE Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis. 15111592 2004