Source: ALL
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: rs1057518882
rs1057518882
MT 14598 missense variant T/C snv
CUI: C0456909
Disease: Blindness
Blindness
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0