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: rs121908212
rs121908212
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121908215
rs121908215
0.882 0.160 19 13359707 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121908220
rs121908220
0.925 0.120 19 13235685 missense variant G/A snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908236
rs121908236
0.925 0.160 19 13359724 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005