Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 10
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 7
rs199473605
SCN5A
0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 7
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv 6
rs104894585
KCNJ2
0.851 0.120 17 70175263 missense variant C/G;T snv 5
rs199472730
KCNQ1
0.882 0.120 11 2572895 missense variant C/G;T snv 5
rs199472823
KCNQ1
0.851 0.240 11 2571328 missense variant T/C snv 5
rs1554430943
KCNH2
0.925 0.160 7 150974821 missense variant C/T snv 4
rs1554919471
KCNQ1
0.925 0.200 11 2768861 frameshift variant G/- delins 4
rs199473401
KCNQ1
0.925 0.120 11 2570722 missense variant T/C snv 4
rs267606782
EMD
0.925 0.120 X 154379485 start lost A/G snv 4
rs11551437
CALM2
1.000 0.080 2 47161833 missense variant G/A snv 3
rs120074179
KCNQ1
0.925 0.120 11 2572089 missense variant G/A;C;T snv 3
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv 3
rs1554920808
KCNQ1
1.000 0.120 11 2776991 missense variant A/G snv 3
rs199472756
KCNQ1
0.925 0.120 11 2583486 missense variant G/A snv 3
rs199473103
SCN5A
0.925 0.120 3 38606102 missense variant A/G snv 3
rs199473442
KCNQ1
1.000 0.120 11 2445103 missense variant C/G;T snv 3
rs762510312
KCNH2
0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 3