Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500621
rs1060500621
KCNQ1
1 1.000 0.120 11 2572846 missense variant GA/TT mnv 0.700 1.000 10 1999 2016
dbSNP: rs1555843953
rs1555843953
KCNE1
1 1.000 0.120 21 34449430 frameshift variant TGGA/- del 0.700 1.000 6 1997 2014
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2661960 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 1997 2016
dbSNP: rs1554895166
rs1554895166
KCNQ1
1 1.000 0.120 11 2588718 frameshift variant G/- del 0.700 1.000 5 2004 2012
dbSNP: rs397508083
rs397508083
KCNQ1
1 1.000 0.120 11 2588719 frameshift variant A/-;AA delins 7.0E-06 0.700 1.000 5 2004 2012
dbSNP: rs794728562
rs794728562
KCNQ1
1 1.000 0.120 11 2776985 splice acceptor variant G/- delins 0.710 1.000 5 1999 2018
dbSNP: rs1131691762
rs1131691762
KCNE1
1 1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 1997 2014
dbSNP: rs199472926
rs199472926
KCNH2
1 1.000 0.120 7 150951689 stop gained C/A;G;T snv 0.700 1.000 4 2001 2014
dbSNP: rs397508068
rs397508068
KCNQ1
1 1.000 0.120 11 2583527 inframe deletion CTT/- delins 0.700 1.000 4 1998 2016
dbSNP: rs748706373
rs748706373
KCNH2
1 1.000 0.120 7 150947611 frameshift variant AG/- del 0.700 1.000 4 2000 2016
dbSNP: rs770047651
rs770047651
KCNH2
1 1.000 0.120 7 150957291 splice region variant C/T snv 0.700 1.000 4 2000 2009
dbSNP: rs794728504
rs794728504
KCNH2
1 1.000 0.120 7 150947463 frameshift variant C/- delins 0.700 1.000 4 2003 2015
dbSNP: rs1563161538
rs1563161538
KCNH2
1 1.000 0.120 7 150952843 frameshift variant A/- del 0.700 1.000 3 2009 2010
dbSNP: rs1564886323
rs1564886323
KCNQ1
1 1.000 0.120 11 2768842 splice acceptor variant AG/- del 0.700 1.000 3 1997 2009
dbSNP: rs397508075
rs397508075
KCNQ1
1 1.000 0.120 11 2585254 stop gained C/T snv 0.700 1.000 3 2009 2013
dbSNP: rs397508133
rs397508133
KCNQ1
1 1.000 0.120 11 2583433 splice acceptor variant A/C;G snv 0.700 1.000 3 1997 2016
dbSNP: rs1057520598
rs1057520598
KCNH2
1 1.000 0.120 7 150959738 splice acceptor variant T/C snv 0.700 1.000 2 2000 2009
dbSNP: rs1399804251
rs1399804251
KCNH2
1 1.000 0.120 7 150948443 inframe insertion -/GTGTCC delins 0.700 1.000 2 2000 2009
dbSNP: rs1554424070
rs1554424070
KCNH2
1 1.000 0.120 7 150947378 frameshift variant CGCCGACCCGGGC/- delins 0.700 1.000 2 2006 2009
dbSNP: rs1564820372
rs1564820372
KCNQ1
1 1.000 0.120 11 2571324 splice acceptor variant G/C snv 0.700 1.000 2 1997 2009
dbSNP: rs1564820729
rs1564820729
KCNQ1
1 1.000 0.120 11 2572011 splice acceptor variant A/C snv 0.700 1.000 2 1997 2009
dbSNP: rs199472862
rs199472862
KCNH2
1 1.000 0.120 7 150959673 missense variant A/C;G snv 0.020 1.000 2 2004 2005
dbSNP: rs199473354
rs199473354
KCNE1
1 1.000 0.120 21 34449481 missense variant C/T snv 0.020 1.000 2 2003 2016
dbSNP: rs397508096
rs397508096
KCNQ1
1 1.000 0.120 11 2445251 stop gained C/G snv 0.700 1.000 2 2005 2009
dbSNP: rs786205748
rs786205748
CACNA1C
1 1.000 0.120 12 2566465 missense variant C/T snv 0.710 1.000 2 2015 2019