Source: ALL
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: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs121909113
rs121909113 		0.925 0.040 7 76303007 missense variant C/A snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs28937568
rs28937568 		0.925 0.080 7 76304007 missense variant C/G;T snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs28937569
rs28937569 		1.000 0.040 7 76304100 missense variant C/T snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs28939680
rs28939680 		0.925 0.080 7 76303841 missense variant C/A;G;T snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs29001571
rs29001571 		0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs28939680
rs28939680 		0.925 0.080 7 76303841 missense variant C/A;G;T snv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs557327165
rs557327165 		0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2004 2015
dbSNP: rs28939681
rs28939681 		0.925 0.080 7 76303843 missense variant C/T snv 4.0E-06; 8.0E-06
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2004 2013
dbSNP: rs375244209
rs375244209 		1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 0
dbSNP: rs558882005
rs558882005 		1.000 0.040 7 76303820 missense variant A/G snv 4.8E-05 2.9E-05
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 0
dbSNP: rs774585320
rs774585320 		1.000 0.040 7 76304115 stop gained C/A;G;T snv 1.2E-05; 4.1E-06; 4.1E-06
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.800 0
dbSNP: rs1393404971
rs1393404971 		1.000 0.040 7 76302833 missense variant G/A;C snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 1.000 11 2004 2017
dbSNP: rs557327165
rs557327165 		0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 1.000 11 2004 2017
dbSNP: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2008 2017
dbSNP: rs1422978230
rs1422978230 		1.000 0.080 7 76304094 missense variant C/G;T snv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2010 2017
dbSNP: rs587781250
rs587781250 		1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2004 2014
dbSNP: rs770272088
rs770272088 		0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2008 2014
dbSNP: rs863225022
rs863225022 		0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2004 2016
dbSNP: rs28937568
rs28937568 		0.925 0.080 7 76304007 missense variant C/G;T snv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2004 2018
dbSNP: rs863225023
rs863225023 		0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2012 2017
dbSNP: rs2868371
rs2868371 		0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs104894020
rs104894020 		0.882 0.080 7 76304099 missense variant C/T snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 0
dbSNP: rs104894020
rs104894020 		0.882 0.080 7 76304099 missense variant C/T snv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060503021
rs1060503021 		0.925 0.080 7 76304077 stop gained GC/CT mnv
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0