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: rs999788
rs999788
IFNAR2 ; IL10RB ; IL10RB-DT
2 0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs9920
rs9920
CAV1
3 1.000 0.040 7 116560038 3 prime UTR variant T/C snv 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs9884090
rs9884090
ARHGAP31
1 1.000 0.040 3 119397303 intron variant G/A snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs987870
rs987870
HLA-DPA1 ; HLA-DPB1
4 0.851 0.160 6 33075103 intron variant A/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs960709
rs960709
TNIP1
5 0.882 0.120 5 151081488 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs959173
rs959173
CAV1
2 0.925 0.120 7 116542000 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs9373839
rs9373839
ATG5
3 0.882 0.080 6 106207742 intron variant T/C snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs936469
rs936469
PHRF1
1 1.000 0.040 11 606749 non coding transcript exon variant G/A snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs9296015
rs9296015 		4 0.851 0.280 6 32251212 upstream gene variant G/A snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs9277554
rs9277554
HLA-DPB1
7 0.790 0.520 6 33087761 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs9275390
rs9275390 		3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs9275312
rs9275312 		6 0.807 0.280 6 32697951 intergenic variant A/G snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs9275245
rs9275245 		2 0.925 0.160 6 32693166 intergenic variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224 		5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs924080
rs924080 		3 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs883770
rs883770
GSDMB
1 1.000 0.040 17 39907128 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs844648
rs844648
TNFSF4 ; LOC100506023
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8182352
rs8182352 		5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs802791
rs802791
ATG5
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs798036
rs798036
CD2
1 1.000 0.040 1 116766208 intron variant T/A snv 0.17 0.010 < 0.001 1 2017 2017
dbSNP: rs7934606
rs7934606
MUC2
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7929541
rs7929541 		4 0.851 0.160 11 633689 upstream gene variant T/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs7900522
rs7900522
LRMDA
1 1.000 0.040 10 76350213 intron variant T/A;C snv 0.700 1.000 1 2013 2013