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: rs765965968
rs765965968
TBC1D24
5 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.700 0
dbSNP: rs17215437
rs17215437
KCNE3
4 0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03 0.020 1.000 2 2003 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 2002 2002
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 2017 2017
dbSNP: rs41280102
rs41280102
SCN4A
2 0.925 0.200 17 63951560 missense variant C/G snv 9.9E-03 9.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs623011
rs623011 		5 0.827 0.320 17 70263305 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2017 2017
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs80338958
rs80338958
SCN4A
9 0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs80338962
rs80338962
SCN4A
13 0.742 0.240 17 63941508 missense variant T/C snv 0.010 1.000 1 2009 2009