rs119103265
|
0.827 |
0.120 |
1 |
12002033 |
missense variant |
C/T
|
snv
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.820 |
1.000 |
2 |
2006 |
2011 |
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 |
rs387906991
|
1.000 |
0.080 |
1 |
12002028 |
missense variant |
C/G;T
|
snv
|
3.2E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2006 |
2016 |
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 |
rs387906990
|
0.925 |
0.080 |
1 |
11998817 |
missense variant |
T/C
|
snv
|
4.0E-06
|
4.2E-05
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2008 |
2016 |
rs119103267
|
0.790 |
0.160 |
1 |
12009641 |
missense variant |
C/T
|
snv
|
2.5E-04
|
2.8E-04
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2015 |
2015 |
rs2336384
|
1.000 |
0.040 |
1 |
11986006 |
intron variant |
G/T
|
snv
|
|
0.65
|
Platelet Count measurement
|
|
0.800 |
1.000 |
1 |
2011 |
2011 |
rs119103263
|
0.827 |
0.240 |
1 |
11992659 |
missense variant |
C/T
|
snv
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs119103264
|
1.000 |
0.080 |
1 |
12001411 |
missense variant |
A/G
|
snv
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs119103266
|
1.000 |
0.080 |
1 |
11998787 |
missense variant |
C/T
|
snv
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs879253777
|
0.925 |
0.080 |
1 |
11999009 |
missense variant |
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
5 |
2005 |
2016 |
rs119103268
|
0.827 |
0.080 |
1 |
11992689 |
missense variant |
C/T
|
snv
|
|
|
Charcot-Marie-Tooth Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
4 |
2008 |
2014 |
rs4240897
|
1.000 |
0.040 |
1 |
11982698 |
intron variant |
G/A
|
snv
|
|
0.43
|
Tuberculosis
|
Infections
|
0.710 |
1.000 |
1 |
2017 |
2017 |
rs879254011
|
1.000 |
0.080 |
1 |
12002034 |
missense variant |
G/A;C
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
15 |
2006 |
2017 |
rs863224069
|
1.000 |
0.080 |
1 |
11996158 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
12 |
2004 |
2016 |
rs119103268
|
0.827 |
0.080 |
1 |
11992689 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2008 |
2015 |
rs28940291
|
0.776 |
0.080 |
1 |
11992660 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2004 |
2014 |
rs119103263
|
0.827 |
0.240 |
1 |
11992659 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2004 |
2016 |
rs119103265
|
0.827 |
0.120 |
1 |
12002033 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2006 |
2017 |
rs119103267
|
0.790 |
0.160 |
1 |
12009641 |
missense variant |
C/T
|
snv
|
2.5E-04
|
2.8E-04
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1976 |
2017 |
rs755065651
|
1.000 |
0.080 |
1 |
11999055 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2009 |
2016 |
rs863224967
|
1.000 |
0.080 |
1 |
12002069 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2006 |
2017 |
rs1553142428
|
1.000 |
0.080 |
1 |
11996157 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2014 |
rs863224970
|
1.000 |
0.080 |
1 |
11997316 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2005 |
2016 |