rs137852973
|
|
0.752 |
0.200 |
11 |
62702493 |
missense variant
|
G/A;C
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.710 |
1.000 |
7 |
2004 |
2016 |
rs879253777
|
|
0.925 |
0.080 |
1 |
11999009 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.710 |
1.000 |
4 |
2005 |
2016 |
rs879254011
|
|
1.000 |
0.080 |
1 |
12002034 |
missense variant
|
G/A;C
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
15 |
2006 |
2017 |
rs56984562
|
|
0.827 |
0.200 |
1 |
156137666 |
missense variant
|
C/A;G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
14 |
2003 |
2017 |
rs137852972
|
|
0.752 |
0.240 |
11 |
62702499 |
missense variant
|
T/C
|
snv
|
1.6E-05
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
12 |
2004 |
2015 |
rs863224069
|
|
1.000 |
0.080 |
1 |
11996158 |
missense variant
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
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
|
0.700 |
1.000 |
11 |
2008 |
2015 |
rs1553265342
|
|
1.000 |
0.080 |
1 |
156134909 |
missense variant
|
GC/TT
|
mnv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
11 |
2000 |
2015 |
rs28940291
|
|
0.776 |
0.080 |
1 |
11992660 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
11 |
2004 |
2014 |
rs61672878
|
|
0.776 |
0.200 |
1 |
156136094 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
11 |
2000 |
2016 |
rs119103263
|
|
0.827 |
0.240 |
1 |
11992659 |
missense variant
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
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
|
0.700 |
1.000 |
10 |
2006 |
2017 |
rs267607599
|
|
0.925 |
0.120 |
1 |
156136422 |
missense variant
|
A/G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
10 |
2000 |
2015 |
rs57520892
|
|
0.776 |
0.200 |
1 |
156137204 |
missense variant
|
G/A;C
|
snv
|
4.1E-05
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
10 |
1999 |
2015 |
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
|
0.700 |
1.000 |
9 |
1976 |
2017 |
rs267607555
|
|
0.807 |
0.280 |
1 |
156136009 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2004 |
2017 |
rs397517889
|
|
0.925 |
0.120 |
1 |
156136093 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2003 |
2014 |
rs58596362
|
|
0.827 |
0.280 |
1 |
156138613 |
splice region variant
|
C/A;T
|
snv
|
8.1E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2003 |
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
|
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
|
0.700 |
1.000 |
9 |
2006 |
2017 |
rs121912496
|
|
0.882 |
0.120 |
1 |
156134910 |
missense variant
|
C/G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2008 |
2015 |
rs1553142428
|
|
1.000 |
0.080 |
1 |
11996157 |
missense variant
|
A/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2004 |
2014 |
rs59026483
|
|
0.827 |
0.160 |
1 |
156134457 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs60458016
|
|
0.827 |
0.120 |
1 |
156136036 |
stop gained
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2000 |
2014 |
rs863224970
|
|
1.000 |
0.080 |
1 |
11997316 |
missense variant
|
A/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2005 |
2016 |