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: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs4657139
rs4657139 		3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 < 0.001 1 2013 2013
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650
CALM2
3 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 1999 2014
dbSNP: rs1480085793
rs1480085793
SCN5A
1 1.000 0.120 3 38620919 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199473051
rs199473051
SCN5A
2 0.925 0.120 3 38633058 missense variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs199473103
rs199473103
SCN5A
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473225
rs199473225
SCN5A
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs199473317
rs199473317
SCN5A
3 0.882 0.120 3 38551003 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs199473631
rs199473631
SCN5A
3 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs770088052
rs770088052
SCN5A
1 1.000 0.120 3 38581182 missense variant C/A;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs780405533
rs780405533
SCN5A
1 1.000 0.120 3 38560221 stop gained C/A;T snv 3.6E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs794728879
rs794728879
SCN5A
2 0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs794728846
rs794728846
SCN5A
2 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0
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: rs199473538
rs199473538
KCNH2
3 0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 15 2000 2016
dbSNP: rs199472990
rs199472990
KCNH2
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs199472910
rs199472910
KCNH2
5 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.700 1.000 5 2003 2017
dbSNP: rs199473428
rs199473428
KCNH2
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 5 1999 2015
dbSNP: rs769505732
rs769505732
KCNH2
2 0.925 0.120 7 150952696 missense variant G/A snv 4.0E-06 0.020 1.000 2 2005 2013
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 0.010 1.000 1 2005 2005
dbSNP: rs199472936
rs199472936
KCNH2
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs199472960
rs199472960
KCNH2
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008