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 0.900 0.980 101 2005 2019
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.060 0.833 6 2011 2019
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.020 1.000 2 2001 2015
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.020 1.000 2 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.710 1.000 2 2011 2013
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.020 0.500 2 2012 2013
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.710 1.000 2 2011 2017
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.710 1.000 2 2012 2015
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2013 2014
dbSNP: rs864537
rs864537
CD247
4 0.925 0.200 1 167442147 intron variant A/G snv 0.29 0.810 1.000 2 2011 2013
dbSNP: rs10494079
rs10494079
VAV3
4 0.882 1 107832253 intron variant G/C snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2018 2018
dbSNP: rs10752747
rs10752747
MMEL1
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10797431
rs10797431
LOC100996583
5 0.851 0.080 1 2569783 non coding transcript exon variant G/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs11204735
rs11204735
ARNT
2 1.000 0.080 1 150869191 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1126407
rs1126407
LGALS8 ; LOC107985367
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2013 2013
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: rs11586238
rs11586238 		4 0.925 0.160 1 116720516 regulatory region variant C/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs11805303
rs11805303
IL23R ; C1orf141
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs12138909
rs12138909
MMEL1
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012