rs121909209, TGFBI

N. diseases: 9
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.
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
6 0.763 0.160 5 136056781 missense variant G/A snv 0.040 1.000 4 1998 2012
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.763 0.160 5 136056781 missense variant G/A snv 0.040 1.000 4 2000 2007
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.763 0.160 5 136056781 missense variant G/A snv 0.020 1.000 2 2000 2012
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
6 0.763 0.160 5 136056781 missense variant G/A snv 0.010 1.000 1 2000 2000
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.763 0.160 5 136056781 missense variant G/A snv 0.010 1.000 1 2002 2002
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
4 0.763 0.160 5 136056781 missense variant G/A snv 0.840 1.000 4 2007 2012
Thiel-behnke
CUI: C4700127
Disease: Thiel-behnke
2 0.763 0.160 5 136056781 missense variant G/A snv 0.020 1.000 2 2007 2011
Groenouw corneal dystrophy type I (disorder)
3 0.763 0.160 5 136056781 missense variant G/A snv 0.010 1.000 1 2007 2007
Familial Amyloid Polyneuropathy, Type V
19 0.763 0.160 5 136056781 missense variant G/A snv 0.020 1.000 2 2011 2012