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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs1003706636
rs1003706636
NLRP3
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs12046117
rs12046117
VTCN1
1 1.000 0.120 1 117208743 intron variant C/T snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2240337
rs2240337
PADI4
2 0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs34884278
rs34884278 		14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs55705316
rs55705316 		14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs6689858
rs6689858
CRB1
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2013 2015
dbSNP: rs10931481
rs10931481
STAT4
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11893432
rs11893432
STAT4
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.010 1.000 1 2019 2019