Disease: Cerebrooculofacioskeletal Syndrome 2 ×
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: rs121913023
rs121913023 		0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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 1 2001 2001
dbSNP: rs121913024
rs121913024 		0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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 1 2001 2001
dbSNP: rs121913026
rs121913026 		0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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
dbSNP: rs1555775416
rs1555775416 		1.000 0.280 19 45352307 stop gained G/A snv
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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
dbSNP: rs376556895
rs376556895 		0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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
dbSNP: rs41556519
rs41556519 		0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		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