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 0.740 0.800 5 2008 2016
dbSNP: rs249038
rs249038
ZFYVE16
1 1.000 0.040 5 80449650 missense variant A/G snv 0.91 0.87 0.700 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.040 1.000 4 2008 2014
dbSNP: rs4141001
rs4141001
PDE1C ; ITPRID1
1 1.000 0.040 7 31642839 missense variant C/G;T snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.700 1.000 1 2016 2016
dbSNP: rs4833837
rs4833837
IL21
5 0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 0.010 1.000 1 2015 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 10 2008 2015
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2014 2019
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.710 1.000 2 2015 2017
dbSNP: rs2243188
rs2243188
IL19 ; LOC105372878
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2004 2004
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.710 1.000 3 2012 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2274907
rs2274907
ITLN1
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 0.500 2 2013 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs469758
rs469758
ERAP1 ; LOC102724748
5 0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63 0.700 1.000 1 2016 2016
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1131017
rs1131017
RPS26 ; LOC105369780
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs11574938
rs11574938
ITGAL
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2015 2015
dbSNP: rs892085
rs892085
QTRT1
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.800 1.000 2 2012 2015
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2008 2008