rs756283153, AGT

N. diseases: 3
Disease: Familial Amyloid Polyneuropathy, Type V ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
0.010 GeneticVariation BEFREE The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy. 19461933 2009