Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 16
rs199472823
KCNQ1
0.851 0.240 11 2571328 missense variant T/C snv 5
rs199473401
KCNQ1
0.925 0.120 11 2570722 missense variant T/C snv 4
rs915012109
SMYD1
0.925 0.040 2 88096710 missense variant T/C snv 4.0E-06 7.0E-06 3
rs1047624774
ATP2B4
1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 2
rs1287693879
DNAH8
1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 2
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs587777907
KCNH2
1.000 0.120 7 150958319 missense variant T/A snv 2.0E-05 2
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs199473012
KCNH2
1.000 0.120 7 150947708 missense variant G/C snv 2.6E-05 4.2E-05 2
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
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
rs120074179
KCNQ1
0.925 0.120 11 2572089 missense variant G/A;C;T snv 3
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 7
rs762510312
KCNH2
0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 3
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv 6
rs121434500
SNTA1
0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 5
rs11551437
CALM2
1.000 0.080 2 47161833 missense variant G/A snv 3
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv 3
rs199472756
KCNQ1
0.925 0.120 11 2583486 missense variant G/A snv 3
rs786205753
CACNA1C
0.925 0.080 12 2593255 missense variant G/A snv 3
rs139467962
SNTA1
1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05 2
rs554903493
SLCO6A1
1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 2