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: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.810 1.000 5 2010 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 3 2010 2012
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs11021232
rs11021232 		1 1.000 0.040 11 95587644 intron variant T/C snv 0.14 0.800 1.000 2 2012 2016
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 2 2010 2012
dbSNP: rs12206499
rs12206499
HLA-A
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs2111485
rs2111485 		17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 2 2012 2016
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs3806156
rs3806156
BTNL2 ; TSBP1-AS1
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs4908760
rs4908760
RERE
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs532098
rs532098
HLA-DRB1
3 0.882 0.120 6 32610275 intergenic variant G/A snv 0.43 0.700 1.000 2 2010 2012
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.820 1.000 2 2013 2017
dbSNP: rs6902119
rs6902119
FGFR1OP
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs9271597
rs9271597 		3 0.925 0.080 6 32623514 upstream gene variant T/A snv 0.39 0.700 1.000 2 2016 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10155912
rs10155912
PARP12
1 1.000 0.040 7 140058921 intron variant A/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10200159
rs10200159
PPP4R3B ; LOC107985885
1 1.000 0.040 2 55617974 non coding transcript exon variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10250629
rs10250629
SPATA48
1 1.000 0.040 7 50151757 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016