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: rs10800397
rs10800397
NOS1AP
1 1.000 0.120 1 162267300 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2074238
rs2074238
KCNQ1
3 1.000 0.120 11 2463573 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs4657139
rs4657139 		3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs199473480
rs199473480
KCNQ1
2 0.925 0.120 11 2776006 stop gained C/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs397508097
rs397508097
KCNQ1
6 0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 0.700 1.000 9 2001 2014
dbSNP: rs17215500
rs17215500
KCNQ1
7 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.720 1.000 8 1999 2015
dbSNP: rs794728537
rs794728537
KCNQ1
3 0.925 0.120 11 2778023 stop gained C/T snv 0.700 1.000 6 1999 2014
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.710 0.800 5 2003 2012
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: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs397508075
rs397508075
KCNQ1
1 1.000 0.120 11 2585254 stop gained C/T snv 0.700 1.000 3 2009 2013
dbSNP: rs397508096
rs397508096
KCNQ1
1 1.000 0.120 11 2445251 stop gained C/G snv 0.700 1.000 2 2005 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: rs794728399
rs794728399
KCNH2
1 1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06 0.700 1.000 2 2009 2012
dbSNP: rs1057517742
rs1057517742
KCNH2
1 1.000 0.120 7 150958430 stop gained G/C;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1137617
rs1137617
KCNH2
1 1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs120074186
rs120074186
KCNQ1
4 0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs189014161
rs189014161
KCNH2
3 0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs199472765
rs199472765
KCNQ1
2 0.925 0.120 11 2585225 stop gained C/A;G snv 0.710 1.000 1 2011 2011
dbSNP: rs199473203
rs199473203
SCN5A
1 1.000 0.120 3 38575345 stop gained C/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs199473339
rs199473339
SCN5A
2 0.925 0.120 3 38605953 stop gained C/A;T snv 6.3E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs201002736
rs201002736
SCN5A
1 1.000 0.120 3 38614031 stop gained G/A;T snv 8.3E-05; 8.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs876661350
rs876661350
KCNQ1
1 1.000 0.120 11 2570678 stop gained G/A snv 0.010 1.000 1 2020 2020