rs119103267
|
0.790 |
0.160 |
1 |
12009641 |
missense variant |
C/T
|
snv
|
2.5E-04
|
2.8E-04
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
12 |
2008 |
2019 |
rs28940292
|
0.851 |
0.080 |
1 |
12011510 |
missense variant |
G/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2004 |
2015 |
rs28940294
|
0.882 |
0.080 |
1 |
12001423 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2004 |
2011 |
rs138382758
|
1.000 |
0.080 |
1 |
12004835 |
missense variant |
G/A
|
snv
|
2.1E-03
|
2.5E-03
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs1553144059
|
1.000 |
0.080 |
1 |
12002071 |
missense variant |
G/A
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs28940291
|
0.776 |
0.080 |
1 |
11992660 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs28940293
|
0.882 |
0.080 |
1 |
11992606 |
missense variant |
T/C;G
|
snv
|
8.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs28940295
|
1.000 |
0.080 |
1 |
11999030 |
missense variant |
C/G;T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs28940296
|
0.925 |
0.080 |
1 |
11992584 |
missense variant |
G/A;T
|
snv
|
3.6E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2004 |
2011 |
rs879253777
|
0.925 |
0.080 |
1 |
11999009 |
missense variant |
G/A;T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2016 |
rs794729198
|
1.000 |
0.080 |
1 |
11999025 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs763492075
|
1.000 |
0.080 |
1 |
12007126 |
missense variant |
G/A;C;T
|
snv
|
2.0E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs879253861
|
1.000 |
0.080 |
1 |
11997301 |
missense variant |
T/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs879253862
|
1.000 |
0.080 |
1 |
11997348 |
missense variant |
G/A
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs879253925
|
1.000 |
0.080 |
1 |
11998823 |
missense variant |
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs119103261
|
0.882 |
0.080 |
1 |
12002014 |
missense variant |
G/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103265
|
0.827 |
0.120 |
1 |
12002033 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103268
|
0.827 |
0.080 |
1 |
11992689 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1266361856
|
1.000 |
0.080 |
1 |
12004858 |
stop gained |
C/G;T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557522849
|
0.925 |
0.080 |
1 |
11997319 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs369140232
|
1.000 |
0.080 |
1 |
12005770 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.6E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|