rs121909211, TGFBI

N. diseases: 15
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.
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2000 2000
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
3 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
Corneal Dystrophy, Lattice Type IIIA
6 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2011 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2011 2011
Stromal Dystrophies, Corneal
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
1 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2000 2000
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
4 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2007 2007
Corneal guttata
CUI: C0271288
Disease: Corneal guttata
1 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.020 1.000 2 2000 2019
Familial Amyloid Polyneuropathy, Type V
19 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.030 1.000 3 2000 2016
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.040 1.000 4 1998 2007
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
13 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.040 1.000 4 2000 2011
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
6 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.880 1.000 10 1998 2019
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.100 1.000 13 1998 2019
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
6 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.100 1.000 13 1998 2017
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.900 1.000 29 1998 2019