rs62636503
|
|
0.882 |
0.080 |
8 |
24953779 |
missense variant
|
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.810 |
1.000 |
15 |
2000 |
2016 |
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.810 |
1.000 |
0 |
2011 |
2011 |
rs59443585
|
|
0.925 |
0.080 |
8 |
24955521 |
missense variant
|
T/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.800 |
1.000 |
7 |
2000 |
2015 |
rs58982919
|
|
0.790 |
0.080 |
8 |
24956223 |
missense variant
|
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
0.800 |
1.000 |
4 |
2004 |
2016 |
rs62636503
|
|
0.882 |
0.080 |
8 |
24953779 |
missense variant
|
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
0.800 |
1.000 |
4 |
2004 |
2016 |
rs60261494
|
|
0.882 |
0.080 |
8 |
24956493 |
missense variant
|
GG/CT
|
mnv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.800 |
|
0 |
|
|
rs60261494
|
|
0.882 |
0.080 |
8 |
24956493 |
missense variant
|
GG/CT
|
mnv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.800 |
|
0 |
|
|
rs267607538
|
|
0.925 |
0.120 |
8 |
24956451 |
missense variant
|
G/C;T
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.710 |
1.000 |
0 |
2008 |
2008 |
rs58982919
|
|
0.790 |
0.080 |
8 |
24956223 |
missense variant
|
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
1.000 |
8 |
2002 |
2016 |
rs587777880
|
|
1.000 |
0.080 |
8 |
24955722 |
missense variant
|
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs587777881
|
|
1.000 |
0.080 |
8 |
24955509 |
missense variant
|
A/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs587777882
|
|
1.000 |
0.080 |
8 |
24953646 |
missense variant
|
G/A;C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs62636502
|
|
1.000 |
0.080 |
8 |
24955713 |
missense variant
|
A/C;G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs58982919
|
|
0.790 |
0.080 |
8 |
24956223 |
missense variant
|
T/C
|
snv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
1.000 |
2 |
2003 |
2004 |
rs61491953
|
|
0.925 |
0.080 |
8 |
24956493 |
missense variant
|
G/A;C;T
|
snv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
1.000 |
2 |
2003 |
2004 |
rs121913663
|
|
1.000 |
0.080 |
8 |
24956098 |
stop gained
|
C/A;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
|
0 |
|
|
rs1411999109
|
|
1.000 |
0.080 |
8 |
24955720 |
missense variant
|
C/T
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
|
0 |
|
|
rs191346286
|
|
1.000 |
0.080 |
8 |
24953704 |
stop gained
|
G/A;T
|
snv
|
4.4E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.700 |
|
0 |
|
|
rs199422214
|
|
1.000 |
0.080 |
8 |
24955888 |
stop gained
|
C/A;G
|
snv
|
1.7E-05
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
|
0 |
|
|
rs281865140
|
|
0.925 |
0.080 |
8 |
24955515 |
missense variant
|
T/C;G
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.700 |
|
0 |
|
|
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
Distal lower limb muscle weakness
|
0.700 |
|
0 |
|
|
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
Distal muscle weakness
|
0.700 |
|
0 |
|
|
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.700 |
|
0 |
|
|
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
Decreased nerve conduction velocity
|
0.700 |
|
0 |
|
|
rs28928910
|
|
0.827 |
0.200 |
8 |
24956452 |
missense variant
|
G/A;T
|
snv
|
|
|
Charcot-Marie-Tooth disease, Type 1C
|
0.700 |
|
0 |
|
|