rs121909210, 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.
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2001 2002
Amyloid of cornea
CUI: C2939149
Disease: Amyloid of cornea
5 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1 2004 2004
Corneal dystrophy, Lattice type 3
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
14 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1 2004 2004
Groenouw corneal dystrophy type I (disorder)
3 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2005 2005
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
Irregular astigmatism
CUI: C0152194
Disease: Irregular astigmatism
1 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.040 1.000 4 2000 2010
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
6 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 1998 2010
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
3 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
Corneal Dystrophy, Lattice Type IIIA
6 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
4 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2009 2012
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
6 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2005 2015
Familial Amyloid Polyneuropathy, Type V
19 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.100 0.917 12 1999 2017
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
13 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.900 0.969 32 1998 2019
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.070 1.000 7 1998 2019