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.
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
5 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.900 1.000 27 1997 2016
Reis-Bucklers' corneal dystrophy
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
6 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.860 1.000 12 1998 2013
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
4 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.070 1.000 7 1998 2012
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
9 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.070 1.000 7 1998 2011
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
10 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.020 1.000 2 2000 2012
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
23 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.020 1.000 2 1998 2012
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
120 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.020 1.000 2 2000 2012
Stromal Dystrophies, Corneal
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
1 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.010 1.000 1 2000 2000
Corneal guttata
CUI: C0271288
Disease: Corneal guttata
1 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.010 1.000 1 2000 2000
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
3 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.010 1.000 1 2007 2007
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
7 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.010 1.000 1 2002 2002
Familial Amyloid Polyneuropathy, Type V
8 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.010 1.000 1 2000 2000