VAPB, VAMP associated protein B and C, 9217

N. diseases: 55; N. variants: 3
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: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1837728
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 15 2004 2016
dbSNP: rs281875284
rs281875284 		0.925 0.080 20 58418289 missense variant C/T snv
CUI: C1837728
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 4 2004 2012
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		Nervous System Diseases 0.700 1.000 11 2004 2016
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1854058
Disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE 		Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1854059
Disease: AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL
AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL 		0.700 0
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.944 18 2006 2019
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.030 1.000 3 2010 2015
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2010 2013
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2009 2017
dbSNP: rs149215094
rs149215094 		1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs149215094
rs149215094 		1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs281875284
rs281875284 		0.925 0.080 20 58418289 missense variant C/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs74315431
rs74315431 		0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016