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: rs16843742
rs16843742
PTPRC
1 1.000 0.040 1 198703170 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17190134
rs17190134
HCG22
1 1.000 0.040 6 31054083 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2010 2010
dbSNP: rs17587
rs17587
PSMB9
8 0.807 0.280 6 32857313 missense variant G/A;T snv 0.24; 4.1E-06; 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs199559999
rs199559999
STAT4
1 1.000 0.040 2 191090480 intron variant TAC/- del 0.700 1.000 1 2016 2016
dbSNP: rs2017445
rs2017445
IKZF4 ; LOC105369781
1 1.000 0.040 12 56013288 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
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: rs2248902
rs2248902 		1 1.000 0.040 6 31266337 downstream gene variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs28383344
rs28383344
HLA-DQA1 ; LOC107986589
1 1.000 0.040 6 32637290 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2839511
rs2839511
UBASH3A
1 1.000 0.040 21 42428412 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2858870
rs2858870
HLA-DRB1
4 0.851 0.280 6 32604474 intergenic variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs301807
rs301807
RERE ; RERE-AS1
4 0.925 0.080 1 8424763 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs301819
rs301819
RERE
4 0.882 0.120 1 8441726 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3094061
rs3094061 		2 0.925 0.160 6 30353412 downstream gene variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3130424
rs3130424 		5 0.925 0.040 6 31250462 intergenic variant A/C;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3130455
rs3130455
TCF19 ; CCHCR1
1 1.000 0.040 6 31158201 5 prime UTR variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs34101875
rs34101875 		1 1.000 0.040 6 30455581 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs35860234
rs35860234 		1 1.000 0.040 13 42496070 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3823355
rs3823355
HLA-A ; HCG9
1 1.000 0.040 6 29974306 upstream gene variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs41342147
rs41342147
FARP2
1 1.000 0.040 2 241468173 missense variant G/A;T snv 0.11; 8.0E-06 0.700 1.000 1 2016 2016
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: rs4822024
rs4822024 		1 1.000 0.040 22 41361643 downstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014