Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199473470
rs199473470
KCNQ1
2 1.000 0.120 11 2583472 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs199473605
rs199473605
SCN5A
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs554903493
rs554903493
SLCO6A1
2 1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs566251672
rs566251672
SCN5A
2 1.000 0.120 3 38587437 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs587777907
rs587777907
KCNH2
2 1.000 0.120 7 150958319 missense variant T/A snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs762510312
rs762510312
KCNH2
3 0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2002 2002
dbSNP: rs786205753
rs786205753
CACNA1C
3 0.925 0.080 12 2593255 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs915012109
rs915012109
SMYD1
3 0.925 0.040 2 88096710 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1554430943
rs1554430943
KCNH2
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs199473442
rs199473442
KCNQ1
3 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2016 2016
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2011 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2011 2017
dbSNP: rs1554919471
rs1554919471
KCNQ1
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0