Disease: Cockayne Syndrome ×
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: rs1057518910
rs1057518910 		1.000 0.160 10 49500634 missense variant A/G 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 0.700 0
dbSNP: rs752712823
rs752712823 		1.000 0.160 10 49500628 missense variant T/C 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 2014 2014
dbSNP: rs774175886
rs774175886 		1.000 0.160 10 49500616 missense variant A/C snv 4.0E-05 2.8E-05
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 2014 2014