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: 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: rs1047624774
rs1047624774
ATP2B4
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs1287693879
rs1287693879
DNAH8
2 1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs139467962
rs139467962
SNTA1
2 1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs199472718
rs199472718
KCNQ1
2 1.000 0.120 11 2572102 missense variant A/C;G snv 0.010 1.000 1 2013 2013
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: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.010 1.000 1 2015 2015
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: rs11551437
rs11551437
CALM2
3 1.000 0.080 2 47161833 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.020 1.000 2 2011 2017
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: rs199472730
rs199472730
KCNQ1
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs120074179
rs120074179
KCNQ1
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1554919471
rs1554919471
KCNQ1
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
KCNQ1
3 1.000 0.120 11 2776991 missense variant A/G snv 0.700 1.000 1 2018 2018
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