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: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs121909112
rs121909112 		0.882 0.080 7 76303855 missense variant C/G snv
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		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: 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: rs1563651698
rs1563651698 		1.000 0.040 7 76302731 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: 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: rs375244209
rs375244209 		1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs770272088
rs770272088 		0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		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
dbSNP: rs863225022
rs863225022 		0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		Nervous System Diseases 0.700 0
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: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2004 2019
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: rs770272088
rs770272088 		0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.020 1.000 2 2013 2017
dbSNP: rs104894020
rs104894020 		0.882 0.080 7 76304099 missense variant C/T snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1060503021
rs1060503021 		0.925 0.080 7 76304077 stop gained GC/CT mnv
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 2012 2012
dbSNP: rs1060503021
rs1060503021 		0.925 0.080 7 76304077 stop gained GC/CT mnv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1064795077
rs1064795077 		7 76303853 missense variant C/T snv
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
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