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: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.090 1.000 9 2009 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.020 1.000 2 2009 2015
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11594656
rs11594656 		9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs11805303
rs11805303
IL23R ; C1orf141
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs17085007
rs17085007 		7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1800520
rs1800520
AIRE
5 0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 0.010 1.000 1 2009 2009
dbSNP: rs2108225
rs2108225 		2 1.000 0.040 7 107812658 downstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.810 1.000 3 2010 2019
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.720 1.000 3 2010 2013
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.710 1.000 2 2010 2011
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2010 2010
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 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: rs6498142
rs6498142
CLEC16A
3 16 10987392 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs6960920
rs6960920 		3 0.925 0.040 7 44376473 downstream gene variant G/C;T snv 0.37 0.010 1.000 1 2010 2010
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
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.060 0.833 6 2011 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.730 1.000 4 2011 2017
dbSNP: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.810 0.750 4 2011 2019