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: rs539612316
rs539612316
0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0