Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 ×
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: rs121913028
rs121913028 		0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2007 2013
dbSNP: rs150584960
rs150584960 		1.000 0.280 19 45421315 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs121913027
rs121913027 		1.000 0.280 19 45419151 stop gained G/A snv
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0