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, Juvenile Epithelial of Meesmann
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
18 0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06 0.710 1.000 14 1997 2014
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
54 0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003