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: rs10157763
rs10157763
AKT3
2 1.000 0.040 1 243831739 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10234411
rs10234411
ABCB1
1 1.000 0.040 7 87535576 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2019 2019
dbSNP: rs104894358
rs104894358
KCNA1
3 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs10818488
rs10818488
C5-OT1
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10868235
rs10868235
NTRK2
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1109771
rs1109771
NOTCH4
1 1.000 0.040 6 32219828 intron variant A/G snv 0.57 0.54 0.010 1.000 1 2017 2017
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 2013 2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs1162306056
rs1162306056
KCNQ3
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs117067974
rs117067974
KCNQ2
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs118192249
rs118192249
KCNQ3
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs119488099
rs119488099
LGI1 ; LOC105378437
3 0.925 0.120 10 93777592 missense variant C/T snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121908165
rs121908165
HAX1
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008