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: 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: 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: 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: rs12133079
rs12133079
KCNJ10
1 1.000 0.040 1 160046674 intron variant C/A snv 0.13 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: 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: rs149344567
rs149344567
KCND3
2 0.925 0.120 1 111776247 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs794728708
rs794728708
RYR2
6 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: rs199473320
rs199473320
SCN5A
2 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: rs199473604
rs199473604
SCN5A
3 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 1 2008 2009
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: 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