Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 3
rs72546668
SSUH2 ; CAV3
0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 2
rs139042529
KCNQ1
0.925 0.120 11 2570663 stop gained C/A;G;T snv 8.0E-06; 9.4E-04 2
rs36210422
KCNH2
0.882 0.120 7 150958449 missense variant G/A;C snv 3.2E-04 2
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 2
rs74315447
KCNE2 ; LOC105372791
0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04 2
rs199472776
KCNQ1
0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 3
rs199473603
SCN5A
0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04 3
rs199830292
KCNJ5
0.882 0.120 11 128916630 missense variant G/C snv 1.7E-04 7.7E-05 2
rs28936686
SSUH2 ; CAV3
0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 3
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 5
rs147445322
KCNQ1-AS1 ; KCNQ1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 1
rs199472918
KCNH2
0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05 2
rs794728399
KCNH2
1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06 1
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 5
rs120074187
KCNQ1
0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 2
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 3
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs397508097
KCNQ1
0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 6
rs199473012
KCNH2
1.000 0.120 7 150947708 missense variant G/C snv 2.6E-05 4.2E-05 1
rs773204795
TECRL
0.882 0.120 4 64309896 missense variant C/T snv 2.4E-05 2.1E-05 2
rs199744595
CALM1
0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05 1
rs794728455
KCNH2
0.882 0.120 7 150947796 frameshift variant C/-;CC delins 2.4E-05 3
rs199472800
KCNQ1
0.925 0.120 11 2776033 missense variant G/A;T snv 2.3E-05; 5.7E-06 1
rs121434500
SNTA1
0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 3