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: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
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: 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: 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: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs7219669
rs7219669 		1 17 70525720 intergenic variant G/T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
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: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2001 2001
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: rs104894584
rs104894584
KCNJ2
5 0.851 0.120 17 70175553 missense variant G/A snv 0.030 1.000 3 2005 2017
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.030 1.000 3 2007 2014
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2006 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: 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: 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: 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: rs199473024
rs199473024
KCNH2
2 7 150947362 missense variant T/C snv 7.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2004 2011
dbSNP: rs72544141
rs72544141
ANK2
4 0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04 0.020 1.000 2 2003 2007
dbSNP: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006