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: rs794728537
rs794728537
KCNQ1
3 0.925 0.120 11 2778023 stop gained C/T snv 0.700 1.000 6 1999 2014
dbSNP: rs120074177
rs120074177
KCNQ1
2 0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs1554895166
rs1554895166
KCNQ1
1 1.000 0.120 11 2588718 frameshift variant G/- del 0.700 1.000 5 2004 2012
dbSNP: rs1800171
rs1800171
KCNQ1
3 0.882 0.120 11 2583545 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 5 1998 2012
dbSNP: rs199472706
rs199472706
KCNQ1
3 0.925 0.120 11 2571391 missense variant C/T snv 4.0E-06 1.0E-04 0.700 1.000 5 2005 2016
dbSNP: rs199472755
rs199472755
KCNQ1
4 0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 5 2005 2012
dbSNP: rs199472961
rs199472961
KCNH2
2 0.925 0.120 7 150951495 missense variant T/A;C snv 0.700 1.000 5 1998 2014
dbSNP: rs199472986
rs199472986
KCNH2
2 0.925 0.120 7 150950404 missense variant G/A snv 0.700 1.000 5 2005 2016
dbSNP: rs199473421
rs199473421
KCNH2
2 0.925 0.120 7 150974803 missense variant G/A;C;T snv 0.700 1.000 5 2000 2016
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: rs397508118
rs397508118
KCNQ1
4 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 5 1999 2015
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: rs121912510
rs121912510
KCNH2
2 0.925 0.120 7 150948995 missense variant G/A snv 4.0E-06 0.700 1.000 4 1999 2013
dbSNP: rs139042529
rs139042529
KCNQ1
2 0.925 0.120 11 2570663 stop gained C/A;G;T snv 8.0E-06; 9.4E-04 0.700 1.000 4 2005 2015
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: rs199472983
rs199472983
KCNH2
2 0.925 0.120 7 150950988 missense variant A/G snv 0.700 1.000 4 2009 2015
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: rs116840795
rs116840795
CAV3 ; SSUH2
2 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs121912506
rs121912506
KCNH2
2 0.925 0.120 7 150948984 missense variant C/G;T snv 0.700 1.000 3 1998 2013
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: rs199472712
rs199472712
KCNQ1
3 0.882 0.120 11 2572053 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 1998 2015