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: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.830 0.857 7 2012 2019
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.840 1.000 7 2008 2016
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.820 1.000 6 2014 2019
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.820 0.833 6 2012 2019
dbSNP: rs2075876
rs2075876
AIRE
2 0.925 0.120 21 44289270 non coding transcript exon variant G/A snv 0.19 0.860 0.833 6 2011 2019
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.060 0.667 6 2008 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.060 0.833 6 1998 2017
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.060 0.833 6 2015 2020
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.060 0.833 6 2004 2013
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.820 1.000 6 2007 2018
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.500 6 2010 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.060 1.000 6 2010 2020
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2006 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.050 0.800 5 2008 2018
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.740 1.000 5 2010 2016
dbSNP: rs1343151
rs1343151
IL23R
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.050 1.000 5 2009 2020
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.050 1.000 5 2010 2018
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.050 0.600 5 2014 2019
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.830 1.000 5 2012 2015
dbSNP: rs26232
rs26232
MACIR
4 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2812378
rs2812378
CCL21
8 0.790 0.200 9 34710263 intron variant G/A;C snv 0.820 1.000 5 2008 2017
dbSNP: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.830 1.000 5 2007 2019
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.050 0.800 5 2014 2019
dbSNP: rs5029937
rs5029937
TNFAIP3
4 0.882 0.160 6 137874014 intron variant G/T snv 0.13 0.740 1.000 5 2009 2017
dbSNP: rs6910071
rs6910071
TSBP1 ; TSBP1-AS1
7 0.790 0.320 6 32315077 intron variant A/G snv 0.14 0.810 1.000 5 2007 2016