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: rs1064796370
rs1064796370 		1.000 0.040 7 76302886 frameshift variant -/C delins 2.1E-05
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 0
dbSNP: rs1554614648
rs1554614648 		1.000 0.040 7 76303852 missense variant A/G snv
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 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: 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: rs121909113
rs121909113 		0.925 0.040 7 76303007 missense variant C/A snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121909113
rs121909113 		0.925 0.040 7 76303007 missense variant C/A snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2013 2013
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: 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: rs28939680
rs28939680 		0.925 0.080 7 76303841 missense variant C/A;G;T snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs28939680
rs28939680 		0.925 0.080 7 76303841 missense variant C/A;G;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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
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: rs29001571
rs29001571 		0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-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 2005 2010
dbSNP: rs29001571
rs29001571 		0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2010 2010
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: 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: 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: rs2868371
rs2868371 		0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2015 2019
dbSNP: rs2868371
rs2868371 		0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2015 2019
dbSNP: rs2868371
rs2868371 		0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2015 2019
dbSNP: rs2868371
rs2868371 		0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2013
dbSNP: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2013 2013
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