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 0.090 0.889 9 2005 2015
dbSNP: rs10761745
rs10761745
JMJD1C
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs9414780
rs9414780
JMJD1C
1 1.000 0.120 10 63241673 intron variant A/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10761744
rs10761744
JMJD1C
1 1.000 0.120 10 63341266 intron variant C/G;T snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs7082090
rs7082090
JMJD1C
1 1.000 0.120 10 63239252 intron variant A/G snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2013 2015
dbSNP: rs2075184
rs2075184 		14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2348071
rs2348071
PSMA3 ; ARMH4
5 0.827 0.240 14 58263908 intron variant A/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs7100025
rs7100025
ANKRD30A ; LINC00993
14 0.724 0.240 10 37303610 intron variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs10931481
rs10931481
STAT4
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs6498169
rs6498169
CLEC16A
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs10128264
rs10128264
ZMIZ1
1 1.000 0.120 10 79200216 intron variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs34884278
rs34884278 		14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs7042370
rs7042370
LURAP1L ; LURAP1L-AS1
14 0.724 0.240 9 12785074 intron variant T/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs10954213
rs10954213
IRF5
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 < 0.001 1 2018 2018
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2005 2005
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2014 2018
dbSNP: rs7725052
rs7725052 		16 0.716 0.240 5 40487168 intron variant C/T snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs12917716
rs12917716
CLEC16A
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs602662
rs602662
FUT2 ; LOC105447645
16 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
dbSNP: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs12928404
rs12928404
ATXN2L
15 0.724 0.240 16 28835925 splice region variant T/C snv 0.44 0.45 0.700 1.000 1 2015 2015