Disease: Long QT Syndrome 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805127
KCNE1
0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 17
rs74315446
KCNE1
0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 4
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 6
rs397508104
KCNQ1-AS1 ; KCNQ1
0.925 0.120 11 2847859 frameshift variant C/-;CC delins 2
rs147445322
KCNQ1-AS1 ; KCNQ1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 4
rs199472815
KCNQ1
0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 4
rs794728537
KCNQ1
0.925 0.120 11 2778023 stop gained C/T snv 3
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 3
rs120074189
KCNQ1
0.851 0.120 11 2778003 missense variant C/T snv 4
rs199472807
KCNQ1
0.925 0.120 11 2777002 missense variant G/A;C snv 2
rs199472805
KCNQ1
0.925 0.120 11 2777000 missense variant T/C;G snv 2
rs199472804
KCNQ1
0.925 0.120 11 2776997 missense variant C/A;T snv 2
rs794728531
KCNQ1
0.925 0.120 11 2776055 splice donor variant G/A snv 2
rs199472800
KCNQ1
0.925 0.120 11 2776033 missense variant G/A;T snv 2.3E-05; 5.7E-06 2
rs120074185
KCNQ1
0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 3
rs199473480
KCNQ1
0.925 0.120 11 2776006 stop gained C/A;T snv 2
rs199472795
KCNQ1
0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 6
rs397508097
KCNQ1
0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 6
rs199472790
KCNQ1
0.925 0.120 11 2768900 missense variant T/G snv 2
rs199473479
KCNQ1
0.925 0.120 11 2768888 missense variant T/G snv 2
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 7
rs199472776
KCNQ1
0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 3
rs199472771
KCNQ1
0.925 0.120 11 2587581 missense variant G/A;T snv 2
rs199472768
KCNQ1
0.925 0.120 11 2587576 missense variant T/C;G snv 2
rs199473411
KCNQ1
0.882 0.120 11 2585275 missense variant C/A;T snv 3