Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57105105
rs57105105
0.925 0.080 8 24953776 missense variant C/T snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs58982919
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
dbSNP: rs587777880
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
dbSNP: rs587777881
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
dbSNP: rs587777882
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
dbSNP: rs62636502
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
dbSNP: rs1411999109
rs1411999109
1.000 0.080 8 24955720 missense variant C/T snv 4.0E-06
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs191346286
rs191346286
1.000 0.080 8 24953704 stop gained G/A;T snv 4.4E-05
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs58640772
rs58640772
1.000 0.080 8 24956455 frameshift variant -/TCCACGTAGCGCC delins
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs62636505
rs62636505
0.925 0.080 8 24956235 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 0
dbSNP: rs757417962
rs757417962
1.000 0.080 8 24954233 stop gained G/A;C snv 2.0E-05 7.0E-06
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs876661155
rs876661155
1.000 0.080 8 24956029 stop gained C/A;G snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs59443585
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
dbSNP: rs60261494
rs60261494
0.882 0.080 8 24956493 missense variant GG/CT mnv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs62636503
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
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 1 2011 2011