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: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.020 1.000 2 2011 2012
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10503019
rs10503019
ATP8B1
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1408944
rs1408944
ZMIZ1
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1417210
rs1417210
SLC29A3
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs2071464
rs2071464
PSMB8
2 0.925 0.040 6 32841299 intron variant G/A snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2018 2018
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs35652124
rs35652124
NFE2L2
8 0.790 0.320 2 177265345 intron variant T/C snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs4618569
rs4618569
DDR1
2 0.925 0.040 6 30887474 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs4744411
rs4744411
AOPEP ; LOC101928119
3 0.925 0.040 9 94926763 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs523604
rs523604
CXCR5
3 0.882 0.120 11 118885029 intron variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs613791
rs613791
CXCR5
2 0.925 0.040 11 118893342 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs734930
rs734930
AUTS2
3 0.925 0.040 7 70555174 intron variant T/C snv 0.53 0.010 1.000 1 2010 2010