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 0.010 1.000 1 2012 2012
dbSNP: rs1049194905
rs1049194905
SCN5A
2 0.925 0.080 3 38604063 synonymous variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1237080661
rs1237080661
SCN5A
2 0.925 0.080 3 38604780 stop gained A/G;T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs1355262401
rs1355262401
GJA1
2 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1860561
rs1860561
ATP2A2
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1554108172
rs1554108172
DSP
2 0.925 0.080 6 7579983 stop gained G/T snv 0.700 0
dbSNP: rs104894580
rs104894580
KCNJ2
7 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
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: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs750678689
rs750678689
SCN5A
2 0.925 0.080 3 38566466 synonymous variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs764772142
rs764772142
RYR2
2 0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs59301204
rs59301204
LMNA
4 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.020 1.000 2 2002 2011
dbSNP: rs121918604
rs121918604
RYR2
3 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs765835441
rs765835441
RYR2
1 1.000 0.080 1 237726291 missense variant C/T snv 2.7E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs120074187
rs120074187
KCNQ1
3 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.700 0