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: 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: 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: rs1310230286
rs1310230286
SCN5A
1 1.000 0.040 3 38604872 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2302475
rs2302475
ADCYAP1R1
1 1.000 0.040 7 31081886 intron variant T/C snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs72466451
rs72466451
HSPD1 ; HSPE1 ; HSPE1-MOB4
2 0.925 0.160 2 197498763 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
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 2010 2010
dbSNP: rs199472856
rs199472856
KCNH2
1 1.000 0.040 7 150974717 stop gained T/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1064795287
rs1064795287
KCNH2
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs199473604
rs199473604
SCN5A
4 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 2 2008 2009
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: rs199473014
rs199473014
KCNH2
2 0.925 0.120 7 150947684 missense variant G/T snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473320
rs199473320
SCN5A
3 0.882 0.120 3 38550878 missense variant G/C snv 6.0E-05 4.0E-04 0.010 1.000 1 2017 2017
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: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 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: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2000 2000
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: 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: rs121434278
rs121434278
ACADM
3 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs2266782
rs2266782
FMO3
7 0.851 0.200 1 171107825 missense variant G/A snv 0.37 0.41 0.010 1.000 1 2010 2010
dbSNP: rs2267734
rs2267734
ADCYAP1R1
1 1.000 0.040 7 31095857 intron variant G/A snv 0.56 0.010 1.000 1 2013 2013