Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199473401
KCNQ1
0.925 0.120 11 2570722 missense variant T/C snv 4
rs199473442
KCNQ1
1.000 0.120 11 2445103 missense variant C/G;T snv 3
rs199473470
KCNQ1
1.000 0.120 11 2583472 missense variant C/A snv 2
rs199473605
SCN5A
0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 7
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs267606782
EMD
0.925 0.120 X 154379485 start lost A/G snv 4
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs554903493
SLCO6A1
1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 2
rs566251672
SCN5A
1.000 0.120 3 38587437 missense variant C/A;T snv 4.0E-06; 1.6E-05 2
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 16
rs587777907
KCNH2
1.000 0.120 7 150958319 missense variant T/A snv 2.0E-05 2
rs762510312
KCNH2
0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 3
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 10
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs786205753
CACNA1C
0.925 0.080 12 2593255 missense variant G/A snv 3
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs915012109
SMYD1
0.925 0.040 2 88096710 missense variant T/C snv 4.0E-06 7.0E-06 3