Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 1.000 5 2005 2017
dbSNP: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.770 1.000 8 1996 2019
dbSNP: rs12720459
rs12720459
KCNQ1
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