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: rs1057518956
rs1057518956
0.925 0.080 10 31520308 stop gained C/T snv
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0