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 0.900 0.972 36 2004 2019
dbSNP: rs2941509
rs2941509
IKZF3
2 0.925 0.160 17 39764941 3 prime UTR variant T/C snv 0.91 0.700 1.000 2 2015 2019
dbSNP: rs1707
rs1707
HLA-G
2 0.925 0.120 6 29830833 3 prime UTR variant C/T snv 0.87 0.010 1.000 1 2015 2015
dbSNP: rs9271366
rs9271366 		9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.840 1.000 6 2009 2019
dbSNP: rs10156091
rs10156091
ICA1
1 1.000 0.080 7 8147464 intron variant T/C snv 0.86 0.700 1.000 1 2008 2008
dbSNP: rs2731763
rs2731763
CCDC113 ; LOC105371293
1 1.000 0.080 16 58246174 intron variant G/A snv 0.86 0.700 1.000 1 2017 2017
dbSNP: rs1061501
rs1061501
IRF7
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2011 2011
dbSNP: rs9271055
rs9271055
HLA-DRB1
1 1.000 0.080 6 32607592 intergenic variant G/T snv 0.84 0.700 1.000 1 2013 2013
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.800 1.000 1 2013 2013
dbSNP: rs9782955
rs9782955
LYST
1 1.000 0.080 1 235876577 intron variant T/C snv 0.82 0.700 1.000 2 2009 2015
dbSNP: rs103294
rs103294 		7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs1052231
rs1052231
CD247
1 1.000 0.080 1 167430837 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2009 2009
dbSNP: rs6457374
rs6457374
HLA-B ; LOC112267902
9 0.851 0.200 6 31304484 intron variant C/T snv 0.81 0.700 1.000 1 2014 2014
dbSNP: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs1878186
rs1878186
SLC12A1 ; LOC112267905
1 1.000 0.080 15 48216203 intron variant C/T snv 0.81 0.700 1.000 1 2016 2016
dbSNP: rs4660116
rs4660116
LYST
1 1.000 0.080 1 235865541 intron variant T/C snv 0.81 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 0.060 0.833 6 2015 2019
dbSNP: rs389883
rs389883
CYP21A2 ; STK19
6 0.827 0.200 6 31979683 non coding transcript exon variant G/T snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.967 30 2007 2017
dbSNP: rs630379
rs630379
CYP21A2 ; NELFE
3 0.882 0.200 6 31954477 intron variant A/C snv 0.77 0.79 0.700 1.000 1 2014 2014
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.020 1.000 2 2008 2010
dbSNP: rs1194
rs1194
ZNF76
1 1.000 0.080 6 35295778 3 prime UTR variant A/C;G snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs2075184
rs2075184 		14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs849141
rs849141
JAZF1
6 0.851 0.240 7 28145472 intron variant A/G snv 0.78 0.010 < 0.001 1 2010 2010