Disease: Episodic ataxia type 2 (disorder) ×
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: rs587776694
rs587776694 		1.000 0.120 19 13298819 frameshift variant -/C delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568528298
rs1568528298 		0.925 0.120 19 13317254 frameshift variant -/T delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200962
rs786200962 		0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908227
rs121908227 		1.000 0.120 19 13261495 missense variant A/C snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 16 1996 2014
dbSNP: rs121908231
rs121908231 		1.000 0.120 19 13365335 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs121908233
rs121908233 		1.000 0.120 19 13257474 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908241
rs121908241 		1.000 0.120 19 13299243 missense variant A/G snv 4.1E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs121908244
rs121908244 		1.000 0.120 19 13228722 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs121909326
rs121909326 		0.882 0.160 19 13235219 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1555762855
rs1555762855 		0.925 0.120 19 13317146 frameshift variant AACAATAGCAACACACAGCGTG/- delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568514371
rs1568514371 		1.000 0.120 19 13303803 frameshift variant AG/CTCC delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555762908
rs1555762908 		0.925 0.120 19 13317228 frameshift variant C/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776695
rs587776695 		1.000 0.120 19 13253015 frameshift variant C/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568457080
rs1568457080 		0.925 0.120 19 13245181 splice donor variant C/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 5 1999 2016
dbSNP: rs1555756130
rs1555756130 		0.925 0.120 19 13298878 stop gained C/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555756737
rs1555756737 		0.925 0.120 19 13300638 stop gained C/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908246
rs121908246 		1.000 0.120 19 13308123 missense variant C/A;T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs1315533129
rs1315533129 		1.000 0.120 19 13285067 splice donor variant C/A;T snv 4.1E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908232
rs121908232 		1.000 0.120 19 13257499 missense variant C/G;T snv 4.3E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs794727411
rs794727411 		0.851 0.160 19 13261526 missense variant C/G;T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908215
rs121908215 		0.882 0.160 19 13359707 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908226
rs121908226 		0.925 0.120 19 13231847 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 15 1996 2011
dbSNP: rs121908234
rs121908234 		1.000 0.120 19 13257466 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs121908236
rs121908236 		0.925 0.160 19 13359724 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011