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 |
rs58332872
|
0.882 |
0.080 |
8 |
24956248 |
missense variant |
C/T
|
snv
|
|
|
Cerebellar atrophy
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
Sensorimotor neuropathy
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
Cerebellar atrophy
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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
|
|
|
Decreased nerve conduction velocity
|
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Hand muscle atrophy
|
|
0.700 |
|
0 |
|
|
rs1059111
|
0.827 |
0.200 |
8 |
24952575 |
3 prime UTR variant |
T/A;G
|
snv
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1059111
|
0.827 |
0.200 |
8 |
24952575 |
3 prime UTR variant |
T/A;G
|
snv
|
|
|
Childhood Kidney Wilms Tumor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2979704
|
0.827 |
0.200 |
8 |
24951554 |
3 prime UTR variant |
C/T
|
snv
|
|
0.78
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2979704
|
0.827 |
0.200 |
8 |
24951554 |
3 prime UTR variant |
C/T
|
snv
|
|
0.78
|
Childhood Kidney Wilms Tumor
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs62636503
|
0.882 |
0.080 |
8 |
24953779 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
15 |
2000 |
2016 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
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)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
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)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
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)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs59443585
|
0.925 |
0.080 |
8 |
24955521 |
missense variant |
T/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
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)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2000 |
2015 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
Charcot-Marie-Tooth Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.050 |
1.000 |
5 |
2002 |
2018 |
rs281865140
|
0.925 |
0.080 |
8 |
24955515 |
missense variant |
T/C;G
|
snv
|
|
|
Charcot-Marie-Tooth Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2006 |
2012 |
rs57105105
|
0.925 |
0.080 |
8 |
24953776 |
missense variant |
C/T
|
snv
|
|
|
Charcot-Marie-Tooth Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2004 |
2015 |
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2004 |
rs59443585
|
0.925 |
0.080 |
8 |
24955521 |
missense variant |
T/G
|
snv
|
|
|
Charcot-Marie-Tooth Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2006 |
2012 |
rs61491953
|
0.925 |
0.080 |
8 |
24956493 |
missense variant |
G/A;C;T
|
snv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2004 |