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: rs10489630
rs10489630
IL23R ; C1orf141
2 0.925 0.040 1 67196939 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs6502398
rs6502398 		1 1.000 0.040 17 14832175 upstream gene variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6556416
rs6556416 		2 1.000 0.040 5 159391737 intron variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.870 1.000 9 2010 2019
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.030 1.000 3 2015 2019
dbSNP: rs17095830
rs17095830
ANO6
2 1.000 0.040 12 45381125 intron variant A/G snv 7.9E-02 0.810 1.000 2 2011 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2016 2017
dbSNP: rs27038
rs27038
CAST ; ERAP1 ; LOC102724748
1 1.000 0.040 5 96777250 intron variant A/G snv 0.82 0.020 1.000 2 2011 2019
dbSNP: rs2853550
rs2853550
IL1B
3 0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83 0.020 1.000 2 2017 2020
dbSNP: rs469876
rs469876
ERAP1 ; LOC102724748
1 1.000 0.040 5 96785702 non coding transcript exon variant A/G snv 0.22 0.020 0.500 2 2012 2018
dbSNP: rs10045403
rs10045403
ERAP1
3 0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs10743181
rs10743181 		5 0.827 0.120 11 2208529 regulatory region variant A/G snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs10946808
rs10946808
H2AC9P
5 1.000 0.040 6 26233159 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs11117431
rs11117431 		6 0.807 0.160 16 85981710 intron variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs11145835
rs11145835
SNAPC4
1 1.000 0.040 9 136390000 intron variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs115879499
rs115879499 		2 0.925 0.080 6 31392512 downstream gene variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs11691685
rs11691685
TEX41
5 0.827 0.120 2 144724260 intron variant A/G snv 5.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs12075255
rs12075255
IL19
5 0.827 0.120 1 206788283 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs1217418
rs1217418
PTPN22 ; AP4B1-AS1
2 0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1225955
rs1225955
TXNDC5 ; BLOC1S5-TXNDC5
1 1.000 0.040 6 7900476 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs12598357
rs12598357 		15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs12694846
rs12694846
SP140
5 0.827 0.120 2 230283413 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016