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: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
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 2006 2017
dbSNP: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		Nervous System Diseases 0.020 1.000 2 2004 2006
dbSNP: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2004 2017
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2004 2017
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		Nervous System Diseases 0.020 1.000 2 2006 2011
dbSNP: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2006 2006
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs78852656
rs78852656 		12 119182192 non coding transcript exon variant G/A snv 2.6E-02
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2013 2013
dbSNP: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 		0.700 0
dbSNP: rs1565929080
rs1565929080 		1.000 0.080 12 119187070 missense variant A/C snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1565929090
rs1565929090 		1.000 12 119187079 missense variant A/T snv
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 		0.700 0
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0850703
Disease: Frequent falls
Frequent falls 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 3 2016 2018
dbSNP: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2016 2018