rs1052006472, TGFBI

N. diseases: 5
Source: ALL
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
13 0.827 0.200 5 136060907 missense variant A/G snv 0.710 1.000 1 2003 2003
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.827 0.200 5 136060907 missense variant A/G snv 0.040 1.000 4 2003 2017
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.827 0.200 5 136060907 missense variant A/G snv 0.020 1.000 2 2002 2010
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.827 0.200 5 136060907 missense variant A/G snv 0.010 1.000 1 2002 2002
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.827 0.200 5 136060907 missense variant A/G snv 0.010 1.000 1 2003 2003