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: rs104894584
rs104894584
KCNJ2
5 0.851 0.120 17 70175553 missense variant G/A snv 0.030 1.000 3 2005 2017
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.030 1.000 3 2007 2014
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2006 2017
dbSNP: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.030 1.000 3 2009 2018
dbSNP: rs1800172
rs1800172
KCNQ1 ; KCNQ1-AS1
4 0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03 0.020 1.000 2 2014 2018
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 2010 2017
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.020 1.000 2 2009 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2004 2011
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2010 2017
dbSNP: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs120074195
rs120074195
KCNQ1
3 0.925 0.120 11 2572984 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918606
rs121918606
RYR2
3 0.925 0.080 1 237819181 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1254113735
rs1254113735
PKP2
1 12 32822599 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1254179611
rs1254179611
KCNH2
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1316189390
rs1316189390
HCN4 ; LOC105370890
2 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1339374391
rs1339374391
LMNA
1 1 156135973 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1370940194
rs1370940194
KCNA5
1 12 5044419 missense variant C/T snv 4.4E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137854605
rs137854605
SCN5A
2 1.000 0.120 3 38581337 missense variant GA/TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs137854606
rs137854606
SCN5A
4 0.882 0.120 3 38604062 missense variant C/A snv 0.010 1.000 1 2001 2001