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: rs199472696
rs199472696
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018