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: 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: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.020 1.000 2 2015 2016
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: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
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: 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: 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: 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: rs121918363
rs121918363
SRPX2
2 0.925 0.200 X 100667292 missense variant A/G snv 5.7E-04 4.1E-04 0.010 1.000 1 2019 2019
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: rs145999922
rs145999922
SLC19A3
5 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs15524
rs15524
CYP3A5 ; ZSCAN25
1 1.000 0.040 7 99648291 3 prime UTR variant A/G snv 0.17 0.25 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2012 2012
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2011 2011
dbSNP: rs199472904
rs199472904
KCNH2
2 0.925 0.160 7 150952595 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2304016
rs2304016
SCN2A
2 0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs28898617
rs28898617
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 1.000 0.040 2 233729143 missense variant A/G snv 3.5E-03 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs39861
rs39861
MAST4
1 1.000 0.040 5 66856430 intron variant A/G snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs443198
rs443198
NOTCH4
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.010 1.000 1 2017 2017
dbSNP: rs4906902
rs4906902
GABRB3
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs61822012
rs61822012
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160071368 intron variant A/G snv 0.22 0.010 < 0.001 1 2015 2015