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: rs1554208945
rs1554208945
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0