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: rs121912514
rs121912514 		0.925 0.120 7 150947729 missense variant G/A;T snv 6.0E-05; 6.0E-06
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0
dbSNP: rs1554424772
rs1554424772 		1.000 7 150948855 splice donor variant C/T snv
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0
dbSNP: rs794728455
rs794728455 		0.882 0.120 7 150947796 frameshift variant C/-;CC delins 2.4E-05
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0