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: 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: rs1880243
rs1880243
STEAP1B
1 1.000 0.040 7 22720036 intron variant C/A snv 0.18 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: rs199473604
rs199473604
SCN5A
4 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 2 2008 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: rs137854609
rs137854609
SCN5A
3 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
2 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
4 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
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: 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: 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: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 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: 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: 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: 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: 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