Disease: Charcot-Marie-Tooth Disease ×
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: rs104894078
rs104894078 		0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 2 2010 2015
dbSNP: rs756461496
rs756461496 		0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-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 1 2014 2014
dbSNP: rs886041386
rs886041386 		1.000 0.080 8 74361900 frameshift variant A/- del 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 1 2014 2014
dbSNP: rs104894075
rs104894075 		0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2003 2011
dbSNP: rs104894077
rs104894077 		0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2010 2017
dbSNP: rs1476856429
rs1476856429 		0.882 0.080 8 74364057 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs104894080
rs104894080 		0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1131691282
rs1131691282 		1.000 0.080 8 74361935 missense variant C/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121908113
rs121908113 		0.925 0.080 8 74363011 missense variant C/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs397515432
rs397515432 		0.882 0.080 8 74364270 missense variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs397515442
rs397515442 		0.882 0.080 8 74360194 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013