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: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10798
rs10798
KCNQ1 ; KCNQ1-AS1
1 11 2848935 3 prime UTR variant A/G snv 0.44 0.38 0.010 1.000 1 2016 2016
dbSNP: rs11772585
rs11772585
AKAP9
1 7 91952189 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs12050217
rs12050217
BDKRB1
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12746200
rs12746200
PLA2G4A
6 0.851 0.160 1 186880054 intron variant A/G snv 7.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs199472678
rs199472678
KCNQ1
3 0.925 0.120 11 2445430 missense variant A/G snv 8.9E-06 0.010 1.000 1 2009 2009
dbSNP: rs199472742
rs199472742
KCNQ1
2 1.000 0.120 11 2572982 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs199472921
rs199472921
KCNH2
5 0.882 0.120 7 150951712 missense variant C/G;T snv 0.010 1.000 1 1996 1996
dbSNP: rs2074238
rs2074238
KCNQ1
3 1.000 0.120 11 2463573 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2282972
rs2282972
AKAP9
1 7 92037055 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs342293
rs342293
CTB-30L5.1
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs7808587
rs7808587
AKAP9
1 7 91990782 intron variant G/A snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs8234
rs8234
KCNQ1 ; KCNQ1-AS1
1 11 2848878 3 prime UTR variant A/G snv 0.45 0.38 0.010 1.000 1 2016 2016