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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1999 2019
dbSNP: rs9355610
rs9355610
LOC105378120
3 0.882 0.200 6 166969587 downstream gene variant G/A;T snv 0.850 1.000 6 2011 2018
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
2 0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05 0.050 0.600 5 1999 2003
dbSNP: rs3827440
rs3827440
GPR174 ; LOC107985690
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.050 1.000 5 2014 2019
dbSNP: rs6832151
rs6832151 		2 0.925 0.160 4 40301616 intergenic variant G/A;T snv 0.830 1.000 4 2011 2017
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.030 1.000 3 2010 2018
dbSNP: rs4947296
rs4947296 		5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.810 0.667 3 2011 2019
dbSNP: rs1024161
rs1024161 		2 0.925 0.160 2 203857029 intergenic variant T/A;C snv 0.810 1.000 2 2011 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.020 1.000 2 2005 2018
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.020 1.000 2 2008 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2005 2018
dbSNP: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.020 0.500 2 2003 2005
dbSNP: rs229527
rs229527
C1QTNF6
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.810 1.000 2 2013 2017
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2019
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.810 1.000 2 2011 2013
dbSNP: rs4903964
rs4903964
TSHR
1 1.000 0.120 14 81002610 intron variant G/A;C snv 0.710 1.000 2 2011 2019
dbSNP: rs5912838
rs5912838
LOC107985690
2 0.925 0.280 X 79241621 intergenic variant A/C snv 0.800 1.000 2 2013 2019
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2011 2019
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.020 1.000 2 2009 2013
dbSNP: rs10197319
rs10197319 		1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2009 2009
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs111033304
rs111033304
SLC26A4
1 1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03 0.010 1.000 1 2010 2010
dbSNP: rs11571302
rs11571302 		2 0.925 0.200 2 203878211 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11652878
rs11652878
ITGAE
2 0.925 0.160 17 3751686 missense variant A/C;G snv 4.0E-06; 0.12 0.010 1.000 1 2010 2010