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: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1204372364
rs1204372364
ANK2
2 1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
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: 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: rs137854605
rs137854605
SCN5A
2 1.000 0.120 3 38581337 missense variant GA/TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs184442491
rs184442491
SCN5A
2 1.000 0.120 3 38603888 missense variant C/A snv 2.1E-04 7.7E-04 0.010 1.000 1 2020 2020
dbSNP: rs199472762
rs199472762
KCNQ1
2 1.000 0.120 11 2583540 missense variant C/T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs199473142
rs199473142
SCN5A
2 1.000 0.120 3 38597952 missense variant C/T snv 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs199473256
rs199473256
SCN5A
2 1.000 0.120 3 38556460 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs199473283
rs199473283
SCN5A
2 1.000 0.120 3 38551495 missense variant C/A;G;T snv 4.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs199473310
rs199473310
SCN5A
2 1.000 0.120 3 38551076 missense variant T/A;C;G snv 0.010 1.000 1 2002 2002
dbSNP: rs199473387
rs199473387
KCNJ2
2 1.000 0.120 17 70175952 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs199473405
rs199473405
KCNQ1
2 1.000 0.120 11 2585249 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs199473580
rs199473580
SCN5A
2 1.000 0.120 3 38597926 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs199473648
rs199473648
KCNE2 ; LOC105372791
4 1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs199601548
rs199601548
PKP2
2 1.000 0.080 12 32896548 missense variant G/T snv 1.4E-04 4.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs220733
rs220733
MAS1
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs35530544
rs35530544
ANK2
2 1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs372827955
rs372827955
TBX5
2 1.000 0.080 12 114356026 missense variant G/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs58327533
rs58327533
LMNA
4 1.000 0.120 1 156114991 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs779640835
rs779640835
RYR2
2 1.000 0.040 1 237566723 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs79023478
rs79023478
OBSCN
2 1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs397508087
rs397508087
KCNQ1
2 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 0