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: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.750 0.800 5 2006 2011
dbSNP: rs199473604
rs199473604
SCN5A
4 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 2 2008 2009
dbSNP: rs199473190
rs199473190
SCN5A
1 1.000 0.040 3 38579474 missense variant C/G;T snv 8.2E-06 0.700 1.000 3 2008 2011
dbSNP: rs199473627
rs199473627
SCN5A
1 1.000 0.040 3 38551258 missense variant A/G snv 0.700 1.000 3 2008 2011
dbSNP: rs199473573
rs199473573
SCN5A
2 0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2008 2009
dbSNP: rs121909281
rs121909281
CAV3 ; SSUH2
2 0.925 0.120 3 8733916 missense variant G/A;C snv 4.3E-04 0.700 1.000 1 2007 2007
dbSNP: rs121909282
rs121909282
CAV3 ; SSUH2
2 0.925 0.120 3 8745647 missense variant T/G snv 1.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs147316959
rs147316959
KCNJ8 ; LOC105369689
1 1.000 0.040 12 21765962 missense variant C/T snv 9.9E-05 3.1E-04 0.700 0
dbSNP: rs199472728
rs199472728
KCNQ1
2 0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04 0.700 0
dbSNP: rs199473097
rs199473097
SCN5A
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
dbSNP: rs757532106
rs757532106
SCN5A
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.020 1.000 2 2010 2014
dbSNP: rs2856966
rs2856966
ADCYAP1
2 0.925 0.080 18 907709 missense variant A/G snv 0.19 0.18 0.020 1.000 2 2009 2013
dbSNP: rs10081254
rs10081254
ADCYAP1R1
1 1.000 0.040 7 31082056 intron variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs1064795287
rs1064795287
KCNH2
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs116840776
rs116840776
CAV3 ; SSUH2
2 1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1178561476
rs1178561476
KCND3
1 1.000 0.040 1 111777204 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1186688
rs1186688
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160055093 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1188884950
rs1188884950
SLC9A3 ; PP7080 ; SLC9A3-AS1
2 0.925 0.080 5 474952 missense variant A/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs12133079
rs12133079
KCNJ10
2 1.000 0.040 1 160046674 intron variant C/A snv 0.13 0.010 1.000 1 2017 2017