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: rs1133076
rs1133076
TG
2 0.925 0.080 8 133113438 missense variant G/A snv 0.48 0.56 0.010 1.000 1 2010 2010
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs1015166
rs1015166
TAP2
2 0.925 0.120 6 32830954 intron variant C/G;T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs11571297
rs11571297 		3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs17759659
rs17759659
BCL2
4 0.851 0.120 18 63291411 intron variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2358994
rs2358994
BCL2L15 ; AP4B1-AS1
2 0.925 0.120 1 113886839 intron variant G/A snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7679475
rs7679475
LOC107986309
2 0.925 0.120 4 121392885 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1534422
rs1534422
MIR3681HG
6 0.827 0.160 2 12500615 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs2270450
rs2270450
SLC25A27 ; LOC101926934
5 0.827 0.200 6 46677138 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs10822050
rs10822050 		14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10988542
rs10988542
FNBP1
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
IRF1-AS1
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11839053
rs11839053 		14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1250563
rs1250563
ZMIZ1
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs12598357
rs12598357 		15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs12863738
rs12863738 		14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 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