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: rs121434500
rs121434500
SNTA1
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs199473260
rs199473260
SCN5A
2 0.925 0.120 3 38555720 missense variant T/C snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs121908990
rs121908990
PRKAG2
5 0.827 0.120 7 151560611 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs28933093
rs28933093
LMNA
5 0.882 0.160 1 156130741 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.050 1.000 5 2004 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 1.000 3 2004 2011
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 2004 2004
dbSNP: rs62492438
rs62492438
KCNH2
1 1.000 0.080 7 150955422 missense variant G/A;C snv 7.1E-05 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs74315449
rs74315449
KCNE2 ; LOC105372791
3 0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2004 2004
dbSNP: rs147750704
rs147750704
KCNJ2
3 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.020 1.000 2 2005 2009
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 2019
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.900 0.971 35 2007 2019
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.900 0.933 15 2007 2019
dbSNP: rs2220427
rs2220427 		1 1.000 0.080 4 110793733 upstream gene variant C/T snv 0.15 0.800 1.000 3 2007 2017
dbSNP: rs2634073
rs2634073 		1 1.000 0.080 4 110744627 intergenic variant T/C snv 0.70 0.710 1.000 3 2007 2015
dbSNP: rs13141190
rs13141190 		1 1.000 0.080 4 110807458 intergenic variant A/G snv 0.47 0.700 1.000 2 2007 2009
dbSNP: rs1448817
rs1448817 		1 1.000 0.080 4 110719897 intergenic variant A/G snv 0.37 0.700 1.000 2 2007 2009
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
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 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs199472689
rs199472689
KCNQ1
1 1.000 0.080 11 2527981 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199473444
rs199473444
KCNQ1
2 1.000 0.080 11 2445138 missense variant C/T snv 0.010 1.000 1 2007 2007