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: rs2011425
rs2011425
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
1 1.000 0.040 2 233718962 missense variant T/A;G snv 4.0E-05; 0.11 0.030 1.000 3 2011 2018
dbSNP: rs2279020
rs2279020
GABRA1
2 1.000 0.040 5 161895883 non coding transcript exon variant G/A snv 0.62 0.63 0.030 1.000 3 2010 2016
dbSNP: rs3773364
rs3773364
SYN2
2 0.925 0.040 3 12148468 intron variant A/G snv 0.15 0.030 0.667 3 2010 2015
dbSNP: rs2292096
rs2292096
CAMSAP2
2 0.925 0.040 1 200857641 3 prime UTR variant A/G snv 0.14 0.810 1.000 2 2012 2013
dbSNP: rs2298771
rs2298771
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.040 2 166036278 missense variant C/T snv 0.73 0.74 0.020 1.000 2 2009 2017
dbSNP: rs587777057
rs587777057
GNAO1
8 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019
dbSNP: rs6755571
rs6755571
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
3 1.000 0.040 2 233718890 missense variant C/A;T snv 3.6E-02; 4.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs751514645
rs751514645
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166036257 missense variant C/T snv 4.0E-06 2.1E-05 0.020 1.000 2 2009 2017
dbSNP: rs10030601
rs10030601
IQCM
1 1.000 0.040 4 149804060 intron variant T/C snv 0.22 0.800 1.000 1 2012 2012
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: rs10496964
rs10496964 		2 0.925 0.040 2 144602342 intergenic variant C/T snv 0.12 0.800 1.000 1 2012 2012
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: 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: rs111577701
rs111577701 		1 1.000 0.040 3 168143620 intergenic variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11214136
rs11214136
BCO2
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11663316
rs11663316 		2 1.000 0.040 18 9027916 intergenic variant T/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1178326
rs1178326
HDAC9
2 1.000 0.040 7 18195234 intron variant T/C snv 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs118166657
rs118166657 		2 1.000 0.040 14 63580544 intergenic variant C/G snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs12059546
rs12059546
CHRM3
2 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs121917986
rs121917986
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918321
rs121918321
STXBP1
2 0.925 0.040 9 127675855 stop gained C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121918612
rs121918612
ATP1A2
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2018 2018