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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs121909323
|
0.790 |
0.160 |
19 |
13277122 |
stop gained |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs121909324
|
0.851 |
0.160 |
19 |
13255217 |
stop gained |
G/A
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs121909326
|
0.882 |
0.160 |
19 |
13235219 |
missense variant |
A/G
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1555737113
|
0.925 |
0.120 |
19 |
13231850 |
missense variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1568440440
|
0.925 |
0.120 |
19 |
13228767 |
stop gained |
GT/-
|
delins
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs786200962
|
0.827 |
0.120 |
19 |
13298768 |
frameshift variant |
A/-
|
del
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs786200963
|
0.827 |
0.200 |
19 |
13371683 |
splice region variant |
C/T
|
snv
|
|
|
Episodic ataxia type 2 (disorder)
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |