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: rs1805010
rs1805010
IL4R
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.020 0.500 2 2012 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 0.500 2 2018 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: rs1422673
rs1422673
TNIP1
2 0.925 0.160 5 151059427 intron variant C/G;T snv 0.700 1.000 1 2012 2012
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: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs204990
rs204990
GPSM3
4 0.851 0.280 6 32193653 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2071591
rs2071591
ATP6V1G2 ; NFKBIL1 ; ATP6V1G2-DDX39B
2 0.925 0.160 6 31548022 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2737713
rs2737713
LGALS8 ; LOC107985367
2 1.000 0.120 1 236537507 missense variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs2844659
rs2844659 		4 0.851 0.280 6 30856755 intergenic variant C/G;T snv 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: rs3129890
rs3129890 		5 0.827 0.280 6 32446496 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3130618
rs3130618
CSNK2B ; GPANK1
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
6 0.807 0.320 6 29978172 intron variant G/A;T snv 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
dbSNP: rs887464
rs887464
POU5F1 ; PSORS1C3
2 0.925 0.200 6 31178143 intron variant C/A;T snv 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: rs9963862
rs9963862
RBBP8
1 1.000 0.120 18 23007948 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs564353179
rs564353179
TTN ; LOC101927055
1 1.000 0.120 2 178780121 missense variant C/G snv 9.6E-05 9.1E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 1 2012 2012
dbSNP: rs7749323
rs7749323 		2 0.925 0.200 6 137909252 intergenic variant G/A snv 3.3E-02 0.010 < 0.001 1 2017 2017
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: rs1235162
rs1235162
GABBR1
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2012 2012