Source: BEFREE ×
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
100 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 68 2005 2019
dbSNP: rs7574865
rs7574865
STAT4
54 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.966 26 2007 2017
dbSNP: rs6920220
rs6920220 		9 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.900 0.938 11 2007 2019
dbSNP: rs10499194
rs10499194 		9 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.880 1.000 8 2007 2016
dbSNP: rs3761847
rs3761847
TRAF1
5 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.870 0.909 7 2007 2015
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: rs2228145
rs2228145
IL6R
48 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.850 0.889 5 2010 2019
dbSNP: rs3087243
rs3087243
CTLA4
35 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.850 0.818 5 2008 2019
dbSNP: rs4810485
rs4810485
CD40
15 0.732 0.480 20 46119308 intron variant T/A;G snv 0.840 1.000 4 2008 2016
dbSNP: rs2104286
rs2104286
IL2RA
20 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.830 1.000 3 2012 2015
dbSNP: rs26232
rs26232
MACIR
1 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.830 1.000 3 2010 2019
dbSNP: rs2736340
rs2736340 		21 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.830 1.000 3 2009 2017
dbSNP: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.830 1.000 3 2007 2019
dbSNP: rs34536443
rs34536443
TYK2
10 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.830 0.857 3 2012 2019
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.820 1.000 2 2012 2017
dbSNP: rs10488631
rs10488631
TNPO3
6 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.820 1.000 2 2010 2016
dbSNP: rs1678542
rs1678542
KIF5A
8 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.820 1.000 2 2008 2014
dbSNP: rs1893592
rs1893592
UBASH3A
6 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.820 1.000 2 2014 2019
dbSNP: rs1980422
rs1980422 		7 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.820 0.833 2 2012 2019
dbSNP: rs2812378
rs2812378
CCL21
3 0.790 0.200 9 34710263 intron variant G/A;C snv 0.820 1.000 2 2008 2017
dbSNP: rs6457617
rs6457617 		3 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.820 1.000 2 2007 2018
dbSNP: rs743777
rs743777
IL2RB
4 0.827 0.200 22 37155567 intron variant A/G snv 0.36 0.820 1.000 2 2007 2014
dbSNP: rs805297
rs805297
BAG6 ; APOM
6 0.851 0.280 6 31654829 intron variant C/A snv 0.23 0.820 1.000 2 2011 2014
dbSNP: rs874040
rs874040 		1 0.925 0.160 4 26106575 downstream gene variant G/C snv 0.29 0.820 1.000 2 2010 2016
dbSNP: rs10774624
rs10774624
LINC02356
2 0.882 0.160 12 111395984 intron variant G/A snv 0.67 0.810 1.000 1 2014 2019