Disease: Timothy 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: rs786205745
rs786205745 		0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.730 1.000 4 2004 2015
dbSNP: rs79891110
rs79891110 		0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.730 1.000 3 2011 2015
dbSNP: rs794727587
rs794727587 		1.000 0.200 12 2665600 missense variant C/G snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.710 < 0.001 1 2012 2012
dbSNP: rs80315385
rs80315385 		0.882 0.200 12 2504932 missense variant G/A snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.710 1.000 1 2013 2013
dbSNP: rs730880056
rs730880056 		1.000 0.200 12 2593261 missense variant G/A;C snv 1.2E-05
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs374528680
rs374528680 		0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587782933
rs587782933 		0.827 0.200 12 2504526 missense variant G/A snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs797044881
rs797044881 		1.000 0.200 12 2608651 missense variant T/C snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2015 2015