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