rs121909208, TGFBI

N. diseases: 13
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.
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
6 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.100 1.000 18 1998 2017
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.070 1.000 7 2000 2015
Groenouw corneal dystrophy type I (disorder)
3 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.850 1.000 6 2002 2019
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.030 1.000 3 2001 2003
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
3 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.020 1.000 2 2003 2017
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
13 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.020 1.000 2 2005 2015
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
Corneal Dystrophy, Lattice Type IIIA
6 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
Corneal erosion
CUI: C0392163
Disease: Corneal erosion
1 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
Familial Amyloid Polyneuropathy, Type V
19 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
6 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2005 2005
Thiel-behnke
CUI: C4700127
Disease: Thiel-behnke
2 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
4 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015