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 0.740 1.000 5 2008 2015
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: 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: 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: rs1126407
rs1126407
LGALS8 ; LOC107985367
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
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: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 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: 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: rs1265159
rs1265159
POU5F1
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs12653117
rs12653117
SEMA5A
1 1.000 0.120 5 9386473 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2012 2012
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: rs1634718
rs1634718
MUC22
3 0.925 0.160 6 31005088 regulatory region variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs16862847
rs16862847
CHRNA1
1 1.000 0.120 2 174764872 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
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: rs1794282
rs1794282 		6 0.807 0.320 6 32698749 intergenic variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1980493
rs1980493
BTNL2 ; TSBP1-AS1
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
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: 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: rs2233287
rs2233287
TNIP1
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012