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: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199516560
rs199516560
ABCB1
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2008 2008
dbSNP: rs1445362103
rs1445362103
ARHGEF7
2 1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1378981995
rs1378981995
ARL13B
3 0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121918822
rs121918822
ASMT
1 Y 1642868 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs387907281
rs387907281
ATP1A3
13 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2010 2010
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10410239
rs10410239
CC2D1A
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs6511901
rs6511901
CC2D1A
2 1.000 0.200 19 13916839 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs753303079
rs753303079
CD55
1 1 207325673 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs864309721
rs864309721
CDC42
2 1.000 1 22086451 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs735555
rs735555
CDK5R1
3 0.925 0.080 17 32490432 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2016 2016