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: 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
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: 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: 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: 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: 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: rs763098034
rs763098034 		0.925 0.080 7 76302821 missense variant C/G;T snv 3.9E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C0030552
Disease: Paresis
Paresis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs761051758
rs761051758 		0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2007 2007