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: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0