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: rs1555789140
rs1555789140
0.882 0.120 20 17970217 frameshift variant C/- delins
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 1.000 1 2017 2017