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: 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 0.020 1.000 2 2016 2017
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2016 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2016 2017
dbSNP: rs104894485
rs104894485
HCN4
4 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs104894580
rs104894580
KCNJ2
7 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121912516
rs121912516
KCNH2
3 0.882 0.120 7 150951721 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2016 2016
dbSNP: rs199473284
rs199473284
SCN5A
2 0.925 0.120 3 38551487 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs199473374
rs199473374
KCNJ2
1 1.000 0.080 17 70175340 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs199473561
rs199473561
SCN5A
3 0.882 0.120 3 38613769 missense variant G/A snv 9.1E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs199473605
rs199473605
SCN5A
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009