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: rs577021605
rs577021605 		0.882 0.400 10 49532904 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 0
dbSNP: rs1554794641
rs1554794641 		0.882 0.400 10 49532757 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 0
dbSNP: rs1554794640
rs1554794640 		0.882 0.400 10 49532751 frameshift variant G/- 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 0
dbSNP: rs121917903
rs121917903 		0.925 0.160 10 49532736 stop gained G/A snv 8.0E-06 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 0
dbSNP: rs1554794620
rs1554794620 		0.882 0.400 10 49532705 frameshift variant GC/- 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 0
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
dbSNP: rs1554794360
rs1554794360 		0.882 0.400 10 49530824 frameshift variant G/- 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 0
dbSNP: rs751838040
rs751838040 		0.925 0.400 10 49530797 stop gained G/A 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 0
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: rs527236039
rs527236039 		1.000 0.160 10 49530716 splice region variant T/- del 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 0
dbSNP: rs1554794073
rs1554794073 		0.882 0.400 10 49528527 splice acceptor 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 0
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: rs1254008304
rs1254008304 		0.882 0.400 10 49524649 frameshift variant -/GG 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 0
dbSNP: rs797045562
rs797045562 		1.000 0.160 10 49524579 frameshift variant -/A ins
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
dbSNP: rs387906262
rs387906262 		1.000 0.160 10 49524457 frameshift variant -/T 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 0
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: 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: rs786205166
rs786205166 		1.000 0.160 10 49524150 frameshift variant A/-;AA 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 0
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: rs1554793174
rs1554793174 		0.882 0.400 10 49524032 splice donor variant C/G 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 0
dbSNP: rs1317145066
rs1317145066 		0.882 0.400 10 49506014 splice acceptor variant T/C snv 4.0E-06 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 0
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: rs371739894
rs371739894 		0.925 0.400 10 49505883 splice donor variant C/A 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 0
dbSNP: rs768608345
rs768608345 		0.882 0.400 10 49500698 splice acceptor variant T/C 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 0
dbSNP: rs121917900
rs121917900 		1.000 0.160 10 49500673 stop gained C/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 0.700 0