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: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
4 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs150172393
rs150172393
KCNQ1
2 0.925 0.120 11 2570733 missense variant C/T snv 2.8E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1800172
rs1800172
KCNQ1 ; KCNQ1-AS1
4 0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs199472690
rs199472690
KCNQ1
2 0.925 0.120 11 2528011 missense variant T/G snv 0.010 1.000 1 1999 1999
dbSNP: rs199472702
rs199472702
KCNQ1
3 0.882 0.120 11 2570754 missense variant G/A;C snv 8.1E-06 0.010 1.000 1 1998 1998
dbSNP: rs199472715
rs199472715
KCNQ1
2 0.925 0.120 11 2572078 missense variant T/A;C snv 0.010 1.000 1 2000 2000
dbSNP: rs199472716
rs199472716
KCNQ1
1 1.000 0.120 11 2572081 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs199472729
rs199472729
KCNQ1
2 0.925 0.120 11 2572889 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs199472764
rs199472764
KCNQ1
2 0.925 0.120 11 2585224 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs199472842
rs199472842
KCNH2
3 0.925 0.120 7 150974861 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs199472904
rs199472904
KCNH2
2 0.925 0.160 7 150952595 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs199472910
rs199472910
KCNH2
5 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs199472921
rs199472921
KCNH2
5 0.882 0.120 7 150951712 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs199472940
rs199472940
KCNH2
2 0.925 0.120 7 150951567 missense variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs199472954
rs199472954
KCNH2
3 0.882 0.120 7 150951514 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs199473014
rs199473014
KCNH2
2 0.925 0.120 7 150947684 missense variant G/T snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473039
rs199473039
KCNH2
4 0.851 0.120 7 150951512 missense variant G/A;C;T snv 9.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs199473133
rs199473133
SCN5A
3 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs199473203
rs199473203
SCN5A
1 1.000 0.120 3 38575345 stop gained C/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs199473282
rs199473282
SCN5A
5 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199473311
rs199473311
SCN5A
3 0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs199473315
rs199473315
SCN5A
2 0.925 0.120 3 38551015 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs199473321
rs199473321
SCN5A
2 0.925 0.120 3 38550856 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs199473339
rs199473339
SCN5A
2 0.925 0.120 3 38605953 stop gained C/A;T snv 6.3E-04 1.3E-04 0.010 1.000 1 2012 2012