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: rs869312708
rs869312708
1.000 21 37506191 stop gained C/T snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0