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: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2020 2020
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: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
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: rs3807989
rs3807989
CAV1
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.870 0.875 8 2012 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: rs6584555
rs6584555
NEURL1
1 1.000 0.080 10 103539854 intron variant T/C snv 0.27 0.740 0.800 5 2016 2019
dbSNP: rs11047543
rs11047543
LOC105369698
2 1.000 0.080 12 24635405 intergenic variant G/A snv 0.12 0.720 1.000 3 2012 2019
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
dbSNP: rs2595104
rs2595104
PITX2
1 1.000 0.080 4 110631977 intron variant T/G snv 0.62 0.720 1.000 3 2016 2019
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: rs7164883
rs7164883
HCN4
1 1.000 0.080 15 73359833 intron variant A/G snv 0.21 0.820 1.000 3 2012 2019
dbSNP: rs8079702
rs8079702 		1 1.000 0.080 17 70194685 intergenic variant G/A snv 0.53 0.020 1.000 2 2014 2019
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs121918603
rs121918603
RYR2
3 0.882 0.080 1 237639068 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1291725984
rs1291725984
SHOX2
1 1.000 0.080 3 158105088 missense variant G/A snv 6.6E-06 7.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs1364685385
rs1364685385
ACSL4 ; KCNE5
1 1.000 0.080 X 109624828 missense variant G/A snv 9.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs138163892
rs138163892
PITX2
2 0.925 0.080 4 110618481 missense variant T/C snv 2.8E-04 2.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs148398509
rs148398509
HCN4
5 0.882 0.160 15 73323445 missense variant G/C snv 7.8E-03 7.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs149868494
rs149868494
SCN4B
2 0.925 0.080 11 118152652 missense variant C/T snv 4.1E-04 8.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1515751
rs1515751
MYL4
1 1.000 0.080 17 47215068 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2019 2019