Disease: Familial Amyloid Polyneuropathy, Type V ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200201691
rs200201691
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.010 GeneticVariation BEFREE Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. 18385782 2008