rs1050842080, TGFBI

N. diseases: 2
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
12 0.925 0.160 5 136056697 missense variant T/G snv 0.740 1.000 4 2000 2010
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.925 0.160 5 136056697 missense variant T/G snv 0.030 1.000 3 2001 2010