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: rs770499406
rs770499406
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0