FAP, fibroblast activation protein alpha, 2191

N. diseases: 216; N. variants: 7
Disease: Amyloidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1335856860
rs1335856860
Entrez Id: 2191
Gene Symbol: FAP
FAP
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome. 26828956 2016