rs121909212, TGFBI

N. diseases: 6
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.
Corneal Dystrophy, Lattice Type IIIA
CUI: C1837974
Disease: Corneal Dystrophy, Lattice Type IIIA
6 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.830 0.800 5 1998 2011
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.700 1.000 7 1998 2016
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.030 0.667 3 2000 2013
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
13 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.020 1.000 2 2000 2013
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.010 1.000 1 2000 2000
Corneal dystrophy, Lattice type 3
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
14 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.010 1.000 1 2000 2000