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: rs17215500
rs17215500
KCNQ1
7 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.730 1.000 11 1999 2015
dbSNP: rs74315445
rs74315445
KCNE1
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.710 1.000 16 1997 2015
dbSNP: rs397508118
rs397508118
KCNQ1
4 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
dbSNP: rs397508112
rs397508112
KCNQ1
3 0.882 0.120 11 2570638 frameshift variant T/- del 0.700 1.000 3 2004 2009
dbSNP: rs397508120
rs397508120
KCNQ1
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs794728565
rs794728565
KCNQ1
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs786204778
rs786204778
KCNQ1
2 0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs199472815
rs199472815
KCNQ1
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.020 1.000 2 2014 2018
dbSNP: rs1167115018
rs1167115018
HFE ; LOC108783645
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs151344631
rs151344631
KCNQ1
5 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs199472702
rs199472702
KCNQ1
3 0.882 0.120 11 2570754 missense variant G/A;C snv 8.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs199472755
rs199472755
KCNQ1
4 0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199473662
rs199473662
KCNQ1
2 0.925 0.120 11 2570718 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs74315446
rs74315446
KCNE1
4 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs745605543
rs745605543
KCNQ4
2 0.925 0.120 1 40784314 missense variant C/T snv 2.7E-05 7.0E-06 0.010 1.000 1 2006 2006