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: rs1057519429
rs1057519429
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1555745467
rs1555745467
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1568440440
rs1568440440
0.925 0.120 19 13228767 stop gained GT/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121908212
rs121908212
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs121908225
rs121908225
0.790 0.120 19 13365448 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1057520918
rs1057520918
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908214
rs121908214
0.925 0.080 19 13230185 missense variant T/G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121908217
rs121908217
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121908224
rs121908224
1.000 0.080 19 13235262 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121908230
rs121908230
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008