Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F ×
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: 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: 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: 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: 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
dbSNP: rs150110356
rs150110356 		1.000 0.080 7 76304087 stop gained G/A;T snv 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 0
dbSNP: rs29001571
rs29001571 		0.851 0.080 7 76303816 missense variant C/A;T snv 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 0.700 0
dbSNP: rs772767500
rs772767500 		1.000 0.080 7 76304117 missense variant C/T snv 2.0E-05; 8.2E-06 7.0E-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 0
dbSNP: rs780878780
rs780878780 		1.000 0.080 7 76302757 missense variant C/A;G;T snv 4.2E-06; 1.7E-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 0