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: rs199472884
rs199472884
KCNH2
2 0.925 0.120 7 150958059 missense variant C/A;G snv 0.700 1.000 3 2005 2009
dbSNP: rs199473430
rs199473430
KCNH2
2 0.925 0.120 7 150951638 missense variant C/A;G snv 0.700 1.000 3 2000 2014
dbSNP: rs199473451
rs199473451
KCNQ1
2 0.925 0.120 11 2527971 missense variant A/G snv 0.700 1.000 3 2003 2007
dbSNP: rs397508075
rs397508075
KCNQ1
1 1.000 0.120 11 2585254 stop gained C/T snv 0.700 1.000 3 2009 2013
dbSNP: rs397508087
rs397508087
KCNQ1
2 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2016
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: rs749697698
rs749697698
SCN5A
3 0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05 0.700 1.000 3 2000 2009
dbSNP: rs761863251
rs761863251
KCNH2
2 0.925 0.120 7 150959591 frameshift variant G/-;GG delins 0.700 1.000 3 2000 2017
dbSNP: rs794728455
rs794728455
KCNH2
3 0.882 0.120 7 150947796 frameshift variant C/-;CC delins 2.4E-05 0.700 1.000 3 2000 2011
dbSNP: rs794728568
rs794728568
KCNQ1
2 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2012 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: rs199472807
rs199472807
KCNQ1
2 0.925 0.120 11 2777002 missense variant G/A;C snv 0.700 1.000 2 2003 2016
dbSNP: rs199472958
rs199472958
KCNH2
2 0.925 0.120 7 150951505 missense variant C/G;T snv 2.0E-05 0.700 1.000 2 2017 2018
dbSNP: rs199473005
rs199473005
KCNH2
2 0.925 0.120 7 150948939 missense variant C/A;T snv 0.700 1.000 2 2009 2016
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
4 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
dbSNP: rs397508096
rs397508096
KCNQ1
1 1.000 0.120 11 2445251 stop gained C/G snv 0.700 1.000 2 2005 2009
dbSNP: rs397508111
rs397508111
KCNQ1
3 0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05 0.700 1.000 2 1999 2013
dbSNP: rs397508117
rs397508117
KCNQ1
2 0.925 0.120 11 2570712 frameshift variant -/G delins 0.700 1.000 2 1997 2011
dbSNP: rs397508120
rs397508120
KCNQ1
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs730880116
rs730880116
KCNH2
2 0.925 0.120 7 150958290 stop gained C/A snv 0.700 1.000 2 2005 2006
dbSNP: rs794728380
rs794728380
KCNH2
1 1.000 0.120 7 150951442 splice region variant A/G snv 0.700 1.000 2 2004 2012