rs121909215, TGFBI

N. diseases: 7
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 0.790 0.200 5 136060898 missense variant G/A snv 0.720 1.000 2 2001 2010
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
13 0.790 0.200 5 136060898 missense variant G/A snv 0.700 1.000 9 1998 2006
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.790 0.200 5 136060898 missense variant G/A snv 0.020 1.000 2 2005 2009
Corneal dystrophy, epithelial basement membrane
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
3 0.790 0.200 5 136060898 missense variant G/A snv 0.010 1.000 1 2016 2016
Epithelial basement membrane dystrophy
CUI: C0271285
Disease: Epithelial basement membrane dystrophy
2 0.790 0.200 5 136060898 missense variant G/A snv 0.010 1.000 1 2016 2016
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.790 0.200 5 136060898 missense variant G/A snv 0.010 1.000 1 2005 2005
Salzmann nodular dystrophy
CUI: C0339271
Disease: Salzmann nodular dystrophy
1 0.790 0.200 5 136060898 missense variant G/A snv 0.010 1.000 1 2009 2009