Disease: Corneal dystrophy, epithelial basement membrane ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909216
rs121909216 		0.882 0.200 5 136055795 missense variant T/G snv
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 2 2006 2011
dbSNP: rs121909217
rs121909217 		1.000 0.120 5 136062674 missense variant G/A;C snv 1.2E-03
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016