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: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
dbSNP: rs7193343
rs7193343
ZFHX3
3 0.882 0.120 16 72995261 intron variant T/A;C snv 0.870 0.857 7 2009 2019
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs883079
rs883079
TBX5
3 1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61 0.710 1.000 5 2016 2018
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: rs199472708
rs199472708
KCNQ1
4 0.882 0.080 11 2572015 missense variant G/A snv 0.030 1.000 3 2014 2018
dbSNP: rs35594137
rs35594137
GJA5 ; LOC102723321
1 1.000 0.080 1 147773393 upstream gene variant C/A;T snv 0.030 1.000 3 2011 2019
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.710 1.000 2 2011 2018
dbSNP: rs10749053
rs10749053
RBM20
1 1.000 0.080 10 110816937 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs1152591
rs1152591
ESR2 ; SYNE2
1 1.000 0.080 14 64214130 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.020 1.000 2 2010 2017
dbSNP: rs133902
rs133902
MYO18B
1 1.000 0.080 22 25768112 splice region variant C/G;T snv 8.7E-06; 0.54 0.700 1.000 2 2018 2018
dbSNP: rs1957021
rs1957021
AKAP6
1 1.000 0.080 14 32455299 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.020 1.000 2 2008 2012
dbSNP: rs2129977
rs2129977 		1 1.000 0.080 4 110791276 upstream gene variant A/G;T snv 0.700 1.000 2 2017 2018
dbSNP: rs3903239
rs3903239 		1 1.000 0.080 1 170600176 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs4871397
rs4871397 		1 1.000 0.080 8 123622957 intron variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs60572254
rs60572254
NEURL1
1 1.000 0.080 10 103565017 intron variant C/T snv 0.700 1.000 2 2017 2018
dbSNP: rs7026071
rs7026071
AOPEP
1 1.000 0.080 9 94730238 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs72811294
rs72811294
MYOCD
1 1.000 0.080 17 12715363 intron variant G/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs73366713
rs73366713
ATXN1
1 1.000 0.080 6 16415520 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs7373065
rs7373065 		1 1.000 0.080 3 38668824 intergenic variant T/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs10006327
rs10006327
SLC9B1
1 1.000 0.080 4 102969823 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.010 1.000 1 2014 2014