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: rs1339374391
rs1339374391
LMNA
1 1 156135973 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs137854606
rs137854606
SCN5A
4 0.882 0.120 3 38604062 missense variant C/A snv 0.010 1.000 1 2001 2001
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: rs1254179611
rs1254179611
KCNH2
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002
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: rs199473401
rs199473401
KCNQ1
4 0.925 0.120 11 2570722 missense variant T/C snv 0.010 1.000 1 2002 2002
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: 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: 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: 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: rs199472762
rs199472762
KCNQ1
2 1.000 0.120 11 2583540 missense variant C/T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs199473631
rs199473631
SCN5A
3 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs104894584
rs104894584
KCNJ2
5 0.851 0.120 17 70175553 missense variant G/A snv 0.030 1.000 3 2005 2017
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: 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: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
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
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2006 2006
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.030 1.000 3 2007 2014
dbSNP: rs1370940194
rs1370940194
KCNA5
1 12 5044419 missense variant C/T snv 4.4E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137854605
rs137854605
SCN5A
2 1.000 0.120 3 38581337 missense variant GA/TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs1415058026
rs1415058026
KCNQ1
1 11 2588755 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199473225
rs199473225
SCN5A
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2007 2007
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