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: 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: 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: 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: 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
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2000 2000
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: rs137854610
rs137854610
SCN5A
1 0.925 0.120 3 38550895 missense variant C/T snv 2.8E-05 1.7E-04 0.010 1.000 1 2001 2001
dbSNP: rs199473124
rs199473124
SCN5A
2 0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001
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: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
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: rs72552293
rs72552293
GPD1L
1 0.925 0.120 3 32140231 missense variant A/G snv 2.5E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
6 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2009 2009
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: rs199473604
rs199473604
SCN5A
3 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 1 2008 2009
dbSNP: rs368660364
rs368660364
SNTA1
1 1.000 0.040 20 33408748 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2009 2009
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: 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: rs1361625573
rs1361625573
SLC9A3 ; SLC9A3-AS1
2 0.925 0.080 5 474979 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
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: 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: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2010 2010
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