rs201928238, CA2

N. diseases: 4
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
14 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.020 1.000 2 2004 2009
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.010 1.000 1 2009 2009
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
8 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.010 1.000 1 1998 1998
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.010 1.000 1 2009 2009