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: rs7973260
rs7973260
KSR2
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs760161369
rs760161369
MTHFR
3 0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs2017122
rs2017122
KMT2A
2 0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs6771023
rs6771023
GSK3B
3 0.882 0.040 3 119974764 intron variant T/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2199503
rs2199503
GSK3B
4 0.851 0.080 3 120059642 intron variant T/C snv 0.79 0.010 1.000 1 2015 2015
dbSNP: rs334535
rs334535
GSK3B
3 0.882 0.040 3 120073457 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs334558
rs334558
GSK3B ; LOC107986119
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs796590326
rs796590326
P2RX7 ; LOC105370032
5 0.851 0.200 12 121162449 missense variant GT/AC mnv 0.010 < 0.001 1 2011 2011
dbSNP: rs208294
rs208294
P2RX7 ; LOC105370032
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 < 0.001 1 2011 2011
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.040 0.500 4 2009 2011
dbSNP: rs201921722
rs201921722 		3 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 0.700 1.000 1 2016 2016
dbSNP: rs12278912
rs12278912
NRGN
3 0.882 0.040 11 124742263 intron variant G/A snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs7189979
rs7189979
SNX29
3 0.925 0.040 16 12536330 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11728985
rs11728985
C4orf33
3 0.925 0.040 4 129115280 3 prime UTR variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs772335034
rs772335034
P2RX2
1 1.000 0.040 12 132618851 missense variant C/A snv 9.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs2221540
rs2221540
OPCML
2 0.925 0.040 11 132846474 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs40184
rs40184
SLC6A3
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.020 1.000 2 2008 2010
dbSNP: rs201569130
rs201569130 		3 0.925 0.040 6 1402916 intergenic variant GACA/- delins 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs142484554
rs142484554
SPSB4
3 0.925 0.040 3 141059454 intron variant GAG/- delins 0.11 0.700 1.000 1 2016 2016
dbSNP: rs190783615
rs190783615 		3 0.925 0.040 X 142772620 intergenic variant T/C snv 9.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs41423247
rs41423247
NR3C1
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs6195
rs6195
NR3C1
6 0.807 0.120 5 143399752 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11155372
rs11155372
UTRN
3 0.925 0.040 6 144698602 intron variant G/C;T snv 0.700 1.000 1 2018 2018