Source: BEFREE ×
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
8 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: rs1064795287
rs1064795287
KCNH2
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs1178561476
rs1178561476
KCND3
1 1.000 0.040 1 111777204 missense variant A/G snv 0.010 1.000 1 2012 2012
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: 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: rs137854609
rs137854609
SCN5A
1 0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs17375748
rs17375748
KCNJ10
1 1.000 0.040 1 160040361 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1801030
rs1801030
SULT1A1
1 1.000 0.040 16 28606164 missense variant C/G;T snv 8.1E-06; 0.98 0.010 1.000 1 2015 2015
dbSNP: rs1805123
rs1805123
KCNH2
17 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: rs199473604
rs199473604
SCN5A
3 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 1 2008 2009
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: 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: rs3906956
rs3906956
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26856350 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs4647924
rs4647924
FGFR3
24 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs72466451
rs72466451
HSPD1 ; HSPE1 ; HSPE1-MOB4
1 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: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs77931234
rs77931234
ACADM
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.010 1.000 1 1996 1996
dbSNP: rs786205867
rs786205867
KCND3
2 0.882 0.080 1 111787039 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2010 2010
dbSNP: rs794728708
rs794728708
RYR2
6 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 2009
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000