rs121908227
|
1.000 |
0.120 |
19 |
13261495 |
missense variant |
A/C
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.810 |
1.000 |
16 |
1996 |
2014 |
rs121908226
|
0.925 |
0.120 |
19 |
13231847 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.810 |
1.000 |
15 |
1996 |
2011 |
rs121908212
|
0.732 |
0.160 |
19 |
13303877 |
missense variant |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1996 |
2017 |
rs121908215
|
0.882 |
0.160 |
19 |
13359707 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908216
|
0.882 |
0.200 |
19 |
13235702 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908228
|
1.000 |
0.120 |
19 |
13365344 |
missense variant |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908233
|
1.000 |
0.120 |
19 |
13257474 |
missense variant |
A/G
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908236
|
0.925 |
0.160 |
19 |
13359724 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908243
|
1.000 |
0.120 |
19 |
13235649 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1996 |
2011 |
rs121908229
|
1.000 |
0.120 |
19 |
13234966 |
missense variant |
T/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
15 |
1996 |
2011 |
rs121908238
|
1.000 |
0.120 |
19 |
13365358 |
missense variant |
T/C
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
15 |
1996 |
2011 |
rs863224852
|
0.882 |
0.160 |
19 |
13359680 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2016 |
2016 |
rs121908231
|
1.000 |
0.120 |
19 |
13365335 |
missense variant |
A/G
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908232
|
1.000 |
0.120 |
19 |
13257499 |
missense variant |
C/G;T
|
snv
|
4.3E-06
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908234
|
1.000 |
0.120 |
19 |
13257466 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908235
|
1.000 |
0.120 |
19 |
13209438 |
missense variant |
G/A
|
snv
|
4.5E-05
|
6.3E-05
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908239
|
1.000 |
0.120 |
19 |
13334411 |
missense variant |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908240
|
1.000 |
0.120 |
19 |
13317168 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908241
|
1.000 |
0.120 |
19 |
13299243 |
missense variant |
A/G
|
snv
|
4.1E-06
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908244
|
1.000 |
0.120 |
19 |
13228722 |
missense variant |
A/G
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908246
|
1.000 |
0.120 |
19 |
13308123 |
missense variant |
C/A;T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2011 |
rs121908242
|
1.000 |
0.120 |
19 |
13298946 |
missense variant |
G/A;C
|
snv
|
5.6E-05;
1.1E-03
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
14 |
1996 |
2011 |
rs1568457080
|
0.925 |
0.120 |
19 |
13245181 |
splice donor variant |
C/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1999 |
2016 |
rs121908247
|
0.851 |
0.160 |
19 |
13235693 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2017 |
rs1568473233
|
0.925 |
0.120 |
19 |
13262790 |
stop gained |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2012 |