rs80358191, COL8A2

N. diseases: 3
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 0.882 0.080 1 36098318 missense variant G/T snv 0.810 1.000 2 2001 2013
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
2 0.882 0.080 1 36098318 missense variant G/T snv 0.800 1.000 1 2001 2001
Fuchs Endothelial Dystrophy
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
32 0.882 0.080 1 36098318 missense variant G/T snv 0.020 1.000 2 2009 2012