Disease: Cockayne Syndrome, Type II ×
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: rs202080674
rs202080674 		0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1998 2017
dbSNP: rs368728467
rs368728467 		1.000 0.160 10 49474074 missense variant A/G;T snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1998 2017
dbSNP: rs751292948
rs751292948 		1.000 0.160 10 49482798 stop gained C/G;T snv 4.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1998 2017
dbSNP: rs1554788393
rs1554788393 		0.882 0.240 10 49482818 missense variant T/C snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 1998 2017
dbSNP: rs121917902
rs121917902 		0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2008 2011
dbSNP: rs1198241866
rs1198241866 		0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2002 2010
dbSNP: rs185142838
rs185142838 		0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2010 2016
dbSNP: rs875989810
rs875989810 		0.851 0.400 10 49528426 stop gained C/A snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1287286877
rs1287286877 		0.882 0.400 10 49470367 frameshift variant -/TC delins 4.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs151242354
rs151242354 		0.925 0.400 10 49482689 stop gained G/A snv 6.4E-05 9.1E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1554787509
rs1554787509 		0.882 0.400 10 49474065 stop gained G/A snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1554793270
rs1554793270 		0.882 0.400 10 49524295 stop gained C/A snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1554874073
rs1554874073 		0.882 0.400 10 49461378 frameshift variant C/- delins
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4253196
rs4253196 		1.000 0.160 10 49473613 intron variant T/C;G snv 5.2E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs751448793
rs751448793 		0.882 0.400 10 49474056 stop gained G/A snv 2.4E-05 1.4E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs754978734
rs754978734 		0.882 0.400 10 49476312 splice acceptor variant T/C snv 1.2E-05 2.1E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs762976316
rs762976316 		0.882 0.400 10 49458898 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs766980240
rs766980240 		0.882 0.400 10 49459235 splice acceptor variant C/G snv 2.0E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs767247987
rs767247987 		0.882 0.400 10 49483384 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs771781694
rs771781694 		0.882 0.400 10 49530737 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs786205168
rs786205168 		1.000 0.160 10 49505892 frameshift variant C/- del
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs786205171
rs786205171 		0.882 0.400 10 49470424 frameshift variant T/- del 1.4E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs786205172
rs786205172 		0.882 0.400 10 49470352 frameshift variant -/AAGGTGGACCTTAAGCAGCCAGCCCT delins 7.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs906755254
rs906755254 		0.882 0.400 10 49472461 stop gained G/A snv 4.0E-06 4.2E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1198472093
rs1198472093 		0.882 0.400 10 49532542 splice donor variant C/G;T snv 8.0E-06 2.1E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0