rs397515379
|
0.925 |
0.120 |
8 |
63065942 |
frameshift variant |
-/AA
|
ins
|
|
9.8E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2015 |
rs121917851
|
0.925 |
0.120 |
8 |
63066056 |
stop gained |
G/A
|
snv
|
2.4E-05
|
3.5E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2015 |
rs143010236
|
1.000 |
0.120 |
8 |
63072935 |
missense variant |
C/T
|
snv
|
3.2E-05
|
7.7E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2014 |
rs397515522
|
1.000 |
0.120 |
8 |
63085847 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs397515524
|
1.000 |
0.120 |
8 |
63066035 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2014 |
rs397515526
|
1.000 |
0.120 |
8 |
63061353 |
missense variant |
C/G
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2014 |
rs397515377
|
0.925 |
0.120 |
8 |
63061345 |
frameshift variant |
T/-
|
delins
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1995 |
2015 |
rs121917850
|
0.925 |
0.120 |
8 |
63064294 |
missense variant |
C/T
|
snv
|
5.6E-05
|
9.8E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1995 |
2004 |
rs397515378
|
0.925 |
0.120 |
8 |
63065969 |
frameshift variant |
A/-
|
delins
|
|
5.6E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1996 |
2004 |
rs35916840
|
1.000 |
0.120 |
8 |
63064208 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.8E-05
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2014 |
rs786204758
|
1.000 |
0.120 |
8 |
63086020 |
start lost |
A/G;T
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1985 |
1999 |
rs886040963
|
1.000 |
0.120 |
8 |
63073089 |
splice acceptor variant |
C/A;G;T
|
snv
|
8.1E-06;
4.0E-06
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2014 |
rs1554524061
|
1.000 |
0.120 |
8 |
63073064 |
stop gained |
TCC/AAT
|
mnv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs886040964
|
1.000 |
0.120 |
8 |
63065902 |
splice donor variant |
A/T
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1008240677
|
1.000 |
0.120 |
8 |
63086009 |
stop gained |
G/A
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516423
|
1.000 |
0.120 |
8 |
63072980 |
stop gained |
T/A
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517448
|
1.000 |
0.120 |
8 |
63066015 |
frameshift variant |
T/-
|
del
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1408863841
|
1.000 |
0.120 |
8 |
63086021 |
start lost |
T/A;C
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554525125
|
1.000 |
0.120 |
8 |
63085904 |
frameshift variant |
CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG/-
|
delins
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554525128
|
1.000 |
0.120 |
8 |
63085917 |
frameshift variant |
GCCGCAGCGCCGCCAGGCCCGGC/-
|
delins
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554605498
|
1.000 |
0.120 |
8 |
63064312 |
stop gained |
G/T
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554605631
|
1.000 |
0.120 |
8 |
63065925 |
frameshift variant |
CT/ACTTAC
|
delins
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563363293
|
1.000 |
0.120 |
8 |
63072954 |
frameshift variant |
T/-
|
delins
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515523
|
1.000 |
0.120 |
8 |
63085831 |
missense variant |
T/C
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515525
|
1.000 |
0.120 |
8 |
63065908 |
missense variant |
A/G
|
snv
|
|
|
Ataxia with vitamin E deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|