Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder) ×
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: rs120074196
rs120074196 		0.882 0.120 11 2572057 missense variant G/A;C snv 4.0E-06
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0
dbSNP: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0
dbSNP: rs397508116
rs397508116 		1.000 11 2570712 frameshift variant T/- del
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0