Disease: CAPOS 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: rs587777771
rs587777771 		0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.870 1.000 8 2014 2019
dbSNP: rs1064797245
rs1064797245 		0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 5 2015 2018
dbSNP: rs1135401821
rs1135401821 		1.000 0.240 19 41986127 missense variant T/C snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1135401822
rs1135401822 		1.000 0.240 19 41975668 missense variant C/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs267606670
rs267606670 		0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907281
rs387907281 		0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs398122887
rs398122887 		0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs606231435
rs606231435 		0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs863224847
rs863224847 		1.000 0.240 19 41984937 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782503624
rs782503624 		0.925 0.240 19 41970308 missense variant C/T snv 4.0E-06
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.040 1.000 4 2015 2019