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: rs185572712
rs185572712 		1.000 0.040 5 60877688 intron variant A/G snv 2.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs1482664387
rs1482664387 		1.000 0.160 5 60887439 splice donor variant C/T snv 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281875221
rs281875221 		1.000 5 60887479 missense variant C/A snv
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		0.800 1.000 1 2009 2009
dbSNP: rs897535441
rs897535441 		0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs897535441
rs897535441 		0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs897535441
rs897535441 		0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs897535441
rs897535441 		0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs897535441
rs897535441 		0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs372237310
rs372237310 		0.925 0.160 5 60887522 splice acceptor variant T/C snv 8.0E-06; 4.0E-06
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		0.700 0
dbSNP: rs372237310
rs372237310 		0.925 0.160 5 60887522 splice acceptor variant T/C snv 8.0E-06; 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434323
rs121434323 		0.925 0.160 5 60890964 stop gained G/C;T snv 4.0E-06
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121434323
rs121434323 		0.925 0.160 5 60890964 stop gained G/C;T snv 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554072713
rs1554072713 		1.000 0.160 5 60891002 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1305258765
rs1305258765 		1.000 0.160 5 60898275 splice donor variant C/A snv 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281875225
rs281875225 		1.000 0.160 5 60898322 missense variant T/C;G snv 8.0E-06; 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2004 2010
dbSNP: rs770499406
rs770499406 		0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs770499406
rs770499406 		0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs770499406
rs770499406 		0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs770499406
rs770499406 		0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554073117
rs1554073117 		1.000 0.160 5 60898402 splice acceptor variant T/A;C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554073175
rs1554073175 		1.000 0.160 5 60899666 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554073177
rs1554073177 		1.000 0.160 5 60899693 stop gained -/TCTCA delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201464610
rs201464610 		1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2016
dbSNP: rs121434326
rs121434326 		1.000 0.160 5 60902446 missense variant C/G snv 6.4E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 3 2004 2010
dbSNP: rs281875224
rs281875224 		1.000 0.160 5 60902454 missense variant A/G snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2004 2010