MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
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: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777300
rs587777300 		1.000 5 139307759 missense variant T/G snv 1.2E-05 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777301
rs587777301 		1.000 5 139322683 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777302
rs587777302 		1.000 5 139307875 missense variant C/T snv 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1208189109
rs1208189109 		1.000 0.080 5 139314697 missense variant G/C snv 4.0E-06
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C0019825
Disease: Hoarseness
Hoarseness 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C1527344
Disease: Dysphonia
Dysphonia 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1226494987
rs1226494987 		0.882 0.080 5 139317091 missense variant C/G snv 4.0E-06
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1226494987
rs1226494987 		0.882 0.080 5 139317091 missense variant C/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1226494987
rs1226494987 		0.882 0.080 5 139317091 missense variant C/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1271177846
rs1271177846 		1.000 0.080 5 139326251 synonymous variant T/C snv 8.0E-06 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs755642199
rs755642199 		1.000 0.040 5 139322873 missense variant G/A snv 4.0E-06
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		Nervous System Diseases 0.010 1.000 1 2018 2018