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: rs397515458
rs397515458
TRDN ; TRDN-AS1
3 0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05 0.010 1.000 1 2015 2015
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: rs199473024
rs199473024
KCNH2
2 7 150947362 missense variant T/C snv 7.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs45627438
rs45627438
SCN5A
3 0.925 0.080 3 38604025 missense variant C/T snv 5.8E-05 2.8E-05 0.010 1.000 1 2014 2014
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: rs199473256
rs199473256
SCN5A
2 1.000 0.120 3 38556460 missense variant A/C;G snv 0.010 1.000 1 2013 2013
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: 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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs199473405
rs199473405
KCNQ1
2 1.000 0.120 11 2585249 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs7219669
rs7219669 		1 17 70525720 intergenic variant G/T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs72554071
rs72554071
KCNJ8 ; LOC105369689
4 0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.040 1.000 4 2011 2018
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: 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: 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: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2011 2011
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: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2010 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2010 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: 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: rs147750704
rs147750704
KCNJ2
3 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs199473604
rs199473604
SCN5A
4 0.882 0.120 3 38560394 missense variant G/T snv 0.010 1.000 1 2009 2009