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: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs146173241
rs146173241 		2 1.000 0.040 10 116285226 downstream gene variant C/T snv 7.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs28498976
rs28498976 		1 1.000 0.040 4 31149735 downstream gene variant G/A snv 0.44 0.700 1.000 1 2014 2014
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: 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: rs143543475
rs143543475 		2 1.000 0.040 10 27419100 upstream gene variant G/C snv 8.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2013 2013
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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs492146
rs492146 		1 1.000 0.040 6 52971097 upstream gene variant G/A snv 0.47 0.700 1.000 1 2014 2014
dbSNP: rs74912790
rs74912790 		2 1.000 0.040 9 21354067 upstream gene variant G/A snv 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs75078187
rs75078187
LOC100506422
2 1.000 0.040 9 26064687 upstream gene variant T/C snv 1.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs9314349
rs9314349
CLU
1 1.000 0.040 8 27616685 upstream gene variant A/G snv 0.30 0.010 < 0.001 1 2017 2017
dbSNP: rs969885
rs969885 		2 0.925 0.040 21 25558821 upstream gene variant C/T snv 8.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs587776954
rs587776954
C12orf57 ; RNU7-1
6 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.060 1.000 6 2013 2018
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1373040226
rs1373040226
LNPEP
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553456695
rs1553456695
NR4A2
1 1.000 0.040 2 156329859 frameshift variant -/C delins 0.700 0