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 |
rs1553142699
|
1.000 |
0.080 |
1 |
11997313 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2008 |
2016 |
rs28940291
|
0.776 |
0.080 |
1 |
11992660 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2008 |
2016 |
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 |
rs119103268
|
0.827 |
0.080 |
1 |
11992689 |
missense variant |
C/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553141017
|
1.000 |
0.080 |
1 |
11989322 |
missense variant |
G/A
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28940292
|
0.851 |
0.080 |
1 |
12011510 |
missense variant |
G/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs757937208
|
1.000 |
0.080 |
1 |
11996178 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1478175861
|
1.000 |
0.080 |
1 |
11989274 |
inframe deletion |
AGA/-
|
delins
|
|
7.0E-06
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|