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: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.020 0.500 2 2018 2019
dbSNP: rs111945767
rs111945767 		1 1.000 0.120 6 32549268 downstream gene variant G/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs150881176
rs150881176
HLA-A
1 1.000 0.120 6 29979963 downstream gene variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs17209237
rs17209237
NR3C1
1 1.000 0.120 5 143277647 downstream gene variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs3129890
rs3129890 		5 0.827 0.280 6 32446496 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3129963
rs3129963 		4 0.851 0.280 6 32412431 downstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.030 0.667 3 2017 2019
dbSNP: rs3761389
rs3761389
AIRE
1 1.000 0.120 21 44285055 upstream gene variant G/A snv 0.14 0.020 1.000 2 2017 2017
dbSNP: rs2233956
rs2233956
C6orf15 ; PSORS1C1
5 0.827 0.320 6 31113428 upstream gene variant T/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs231770
rs231770 		1 1.000 0.120 2 203864430 upstream gene variant C/T snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs2516400
rs2516400 		8 0.827 0.320 6 31513328 upstream gene variant G/A snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2524005
rs2524005
HLA-A
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs2844657
rs2844657 		3 0.882 0.240 6 30861745 upstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3094054
rs3094054 		6 0.807 0.280 6 30365728 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3095089
rs3095089 		3 0.882 0.240 6 30966017 upstream gene variant G/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs3130350
rs3130350 		5 0.827 0.280 6 30360062 upstream gene variant G/T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs886403
rs886403
MUC21
2 0.925 0.160 6 30989841 3 prime UTR variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs9261290
rs9261290
RNF39
10 0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06 0.700 1.000 1 2012 2012
dbSNP: rs9277534
rs9277534
HLA-DPB1
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs11466316
rs11466316
TGFB1
1 1.000 0.120 19 41353431 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs11229
rs11229
PRRC2A
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2517598
rs2517598
TRIM31 ; TRIM31-AS1
4 0.851 0.280 6 30112497 synonymous variant G/A snv 0.14 0.13 0.700 1.000 1 2012 2012
dbSNP: rs8058696
rs8058696
ABCC6
1 1.000 0.120 16 16185012 synonymous variant G/C;T snv 0.42 0.010 1.000 1 2017 2017