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: 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