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: 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: 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: rs12204701
rs12204701 		1 1.000 0.040 6 4644367 regulatory region variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12483428
rs12483428
MIR155HG
1 1.000 0.040 21 25561470 upstream gene variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs12668095
rs12668095
LOC105375268
2 1.000 0.040 7 47036178 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs13026414
rs13026414
LOC101927235 ; LOC105377632
1 1.000 0.040 2 57706920 intergenic variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs1319484809
rs1319484809
SCN8A
1 1.000 0.040 12 51807224 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs13287547
rs13287547
C9orf92
2 1.000 0.040 9 16286892 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs1373040226
rs1373040226
LNPEP
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019
dbSNP: rs1373411103
rs1373411103
SORBS1
1 1.000 0.040 10 95384282 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs139427007
rs139427007
LOC105369927 ; LOC105369928
2 1.000 0.040 12 97202325 intergenic variant A/T snv 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015