Disease: Epithelial basement membrane dystrophy ×
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: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0271285
Disease: Epithelial basement membrane dystrophy
Epithelial basement membrane dystrophy 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121909216
rs121909216 		0.882 0.200 5 136055795 missense variant T/G snv
CUI: C0271285
Disease: Epithelial basement membrane dystrophy
Epithelial basement membrane dystrophy 		Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011