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: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
2 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs120074177
rs120074177
KCNQ1
2 0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs120074178
rs120074178
KCNQ1
2 0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.700 1.000 8 1996 2014
dbSNP: rs120074179
rs120074179
KCNQ1
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.710 1.000 11 1996 2012
dbSNP: rs120074181
rs120074181
KCNQ1
2 0.925 0.120 11 2572981 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs120074184
rs120074184
KCNQ1
2 0.925 0.120 11 2583453 missense variant G/A;C;T snv 0.710 1.000 1 2009 2009
dbSNP: rs120074185
rs120074185
KCNQ1
3 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.710 1.000 1 2005 2005
dbSNP: rs120074186
rs120074186
KCNQ1
4 0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs120074187
rs120074187
KCNQ1
3 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs120074189
rs120074189
KCNQ1
4 0.851 0.120 11 2778003 missense variant C/T snv 0.720 0.917 12 1998 2019
dbSNP: rs120074190
rs120074190
KCNQ1
3 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.730 1.000 11 1999 2017
dbSNP: rs120074191
rs120074191
KCNQ1
2 0.925 0.120 11 2445448 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.020 1.000 2 2003 2004
dbSNP: rs120074193
rs120074193
KCNQ1
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 1997 2015
dbSNP: rs120074194
rs120074194
KCNQ1
2 0.925 0.120 11 2572871 missense variant G/A;T snv 0.700 1.000 6 1997 2007
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: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.710 1.000 1 2018 2018
dbSNP: rs121912506
rs121912506
KCNH2
2 0.925 0.120 7 150948984 missense variant C/G;T snv 0.700 1.000 3 1998 2013
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.710 1.000 9 1995 2013
dbSNP: rs121912508
rs121912508
KCNH2
2 0.925 0.120 7 150951649 missense variant G/A snv 0.700 0
dbSNP: rs121912510
rs121912510
KCNH2
2 0.925 0.120 7 150948995 missense variant G/A snv 4.0E-06 0.700 1.000 4 1999 2013
dbSNP: rs121912511
rs121912511
KCNH2
2 0.925 0.120 7 150974825 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs121912512
rs121912512
KCNH2
3 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2003 2003
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0