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: 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: 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: 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: rs121908235
rs121908235 		1.000 0.120 19 13209438 missense variant G/A snv 4.5E-05 6.3E-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: rs121908239
rs121908239 		1.000 0.120 19 13334411 missense variant G/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 15 1996 2011
dbSNP: rs121908240
rs121908240 		1.000 0.120 19 13317168 missense variant G/A 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: 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: 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: rs121908242
rs121908242 		1.000 0.120 19 13298946 missense variant G/A;C snv 5.6E-05; 1.1E-03
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 14 1996 2011
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: rs121908247
rs121908247 		0.851 0.160 19 13235693 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 0.700 1.000 2 2006 2017
dbSNP: rs1568473233
rs1568473233 		0.925 0.120 19 13262790 stop gained G/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 2 2012 2012
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/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 1 2015 2015
dbSNP: rs121909324
rs121909324 		0.851 0.160 19 13255217 stop gained G/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 1 1999 1999
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: rs1555737113
rs1555737113 		0.925 0.120 19 13231850 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 0.700 1.000 1 2016 2016
dbSNP: rs1568440440
rs1568440440 		0.925 0.120 19 13228767 stop gained GT/- 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 1.000 1 2016 2016
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: rs786200963
rs786200963 		0.827 0.200 19 13371683 splice region 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 0.700 1.000 1 2015 2015
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 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 0.700 0
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/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: rs1272886269
rs1272886269 		0.925 0.120 19 13335805 splice donor variant C/T snv 4.2E-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: 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: rs1555743942
rs1555743942 		0.925 0.120 19 13257514 stop gained G/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