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: rs41310765
rs41310765
SCN5A
5 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.020 1.000 2 2008 2013
dbSNP: rs104894074
rs104894074
GATA4
2 0.925 0.120 8 11708467 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs120074189
rs120074189
KCNQ1
4 0.851 0.120 11 2778003 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs172149856
rs172149856
TRPM4
2 0.925 0.080 19 49188641 missense variant G/A snv 5.1E-04 4.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs199472954
rs199472954
KCNH2
3 0.882 0.120 7 150951514 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs199473039
rs199473039
KCNH2
4 0.851 0.120 7 150951512 missense variant G/A;C;T snv 9.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs267598596
rs267598596
KCNQ4
5 0.827 0.120 1 40818164 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs57629361
rs57629361
LMNA
5 0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs72549410
rs72549410
SCN5A
4 0.851 0.120 3 38606058 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs753734843
rs753734843
HCN4
1 1.000 0.080 15 73322804 missense variant C/A;T snv 6.6E-06; 2.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs758277832
rs758277832
NKX2-5
2 1.000 0.080 5 173233109 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs759067821
rs759067821
GATA4
2 1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2005 2005