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: 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: rs281875223
rs281875223 		1.000 0.160 5 60902477 missense variant C/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
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
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: 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: rs774047625
rs774047625 		1.000 0.160 5 60918264 splice donor variant C/G;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 1.000 2 2006 2015
dbSNP: rs1131691783
rs1131691783 		1.000 0.160 5 60918367 frameshift variant TCT/CA 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 1.000 1 2016 2016
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: rs1404477615
rs1404477615 		1.000 0.160 5 60918350 frameshift variant CA/- 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 1.000 1 2006 2006
dbSNP: rs1554073316
rs1554073316 		1.000 0.160 5 60902509 splice acceptor variant C/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 1.000 1 2010 2010
dbSNP: rs1554076309
rs1554076309 		1.000 5 60945264 stop gained G/A snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 1.000 1 2010 2010
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: rs774542633
rs774542633 		1.000 0.160 5 60918266 frameshift variant ATGTA/- delins 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 1 2017 2017
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;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: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4551520
Disease: Intention tremor
Intention tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0