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 1.000 0.950 80 2004 2020
dbSNP: rs3135002
rs3135002 		2 1.000 0.120 6 32700662 TF binding site variant A/C snv 0.80 0.720 0.500 2 2018 2020
dbSNP: rs559047
rs559047 		2 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020
dbSNP: rs9260151
rs9260151
HLA-A
2 1.000 0.120 6 29943253 non coding transcript exon variant C/T snv 0.16 0.14 0.720 0.500 2 2018 2020
dbSNP: rs3957146
rs3957146 		3 0.882 0.200 6 32713753 upstream gene variant T/C snv 9.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs5400
rs5400
SLC2A2
1 1.000 0.120 3 171014511 missense variant G/A snv 0.15 0.23 0.010 1.000 1 2020 2020
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.790 1.000 12 2009 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.860 0.800 10 2007 2019
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.070 0.714 7 2008 2019
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.830 1.000 7 2007 2019
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.830 0.667 6 2009 2019
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.060 0.833 6 2009 2019
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2000 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.040 0.500 4 2006 2019
dbSNP: rs478582
rs478582
PTPN2
1 1.000 0.120 18 12835977 intron variant T/C snv 0.35 0.040 1.000 4 2011 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.040 0.750 4 2007 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019
dbSNP: rs2281808
rs2281808
SIRPG
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.820 1.000 3 2009 2019
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.030 1.000 3 2013 2019
dbSNP: rs12722495
rs12722495
IL2RA
5 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 0.710 1.000 2 2011 2019
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.020 0.500 2 2007 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 < 0.001 2 2013 2019
dbSNP: rs17388568
rs17388568
ADAD1
6 0.827 0.280 4 122408207 intron variant G/A snv 0.20 0.020 0.500 2 2010 2019
dbSNP: rs17883901
rs17883901
GCLC
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.020 1.000 2 2011 2019