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: 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: 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: rs121908212
rs121908212 		0.732 0.160 19 13303877 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 0.800 1.000 22 1996 2017
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: rs121908228
rs121908228 		1.000 0.120 19 13365344 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 0.800 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: 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
dbSNP: rs121908243
rs121908243 		1.000 0.120 19 13235649 missense variant G/A snv 7.0E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908229
rs121908229 		1.000 0.120 19 13234966 missense variant T/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 0.710 1.000 15 1996 2011
dbSNP: rs121908238
rs121908238 		1.000 0.120 19 13365358 missense variant T/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 0.710 1.000 15 1996 2011
dbSNP: rs863224852
rs863224852 		0.882 0.160 19 13359680 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 0.710 1.000 1 2016 2016
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