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: rs1468231556
rs1468231556 		1.000 0.160 5 60902458 frameshift variant -/A delins 1.4E-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 0.700 1.000 1 2012 2012
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: rs1554076324
rs1554076324 		1.000 5 60945358 frameshift variant A/- del
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs1554076239
rs1554076239 		1.000 0.160 5 60944930 splice donor variant 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: 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: 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: rs1554076306
rs1554076306 		1.000 5 60945256 start lost A/T snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
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: 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: 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: rs121434324
rs121434324 		1.000 0.160 5 60944972 stop gained C/A snv 7.6E-05 4.9E-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 2 2004 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: 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: 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: 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