rs80358192, COL8A2

N. diseases: 6
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.
Corneal dystrophy, Fuchs' endothelial, 1
7 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.700 0
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
2 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.700 0
Fleck corneal dystrophy
CUI: C1562113
Disease: Fleck corneal dystrophy
12 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.020 1.000 2 2005 2005
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2016 2016
Fine corneal edema
CUI: C0474441
Disease: Fine corneal edema
1 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2016 2016
Fuchs Endothelial Dystrophy
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
32 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2009 2009