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: rs146695489
rs146695489
0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013