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: rs34757931
rs34757931
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0