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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.857 14 2005 2019
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.770 1.000 8 2009 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.060 1.000 6 2010 2018
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: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.050 0.800 5 2007 2020
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: rs12101255
rs12101255
TSHR
2 0.925 0.120 14 80984708 intron variant C/T snv 0.37 0.040 1.000 4 2009 2016
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.040 0.750 4 1999 2003
dbSNP: rs6832151
rs6832151 		2 0.925 0.160 4 40301616 intergenic variant G/A;T snv 0.830 1.000 4 2011 2017
dbSNP: rs1368408
rs1368408
SCGB3A2 ; C5orf46
2 0.925 0.160 5 147878599 intron variant G/A snv 0.21 0.030 1.000 3 2009 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2017 2019
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.030 1.000 3 2004 2018
dbSNP: rs231779
rs231779
CTLA4
5 0.827 0.160 2 203869764 intron variant C/T snv 0.41 0.030 1.000 3 2010 2018
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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.020 1.000 2 2010 2018
dbSNP: rs11675434
rs11675434
TPO
5 0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39 0.020 0.500 2 2015 2017
dbSNP: rs12101261
rs12101261
TSHR
1 1.000 0.120 14 80984885 intron variant C/T snv 0.37 0.810 1.000 2 2011 2014
dbSNP: rs1521
rs1521 		3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.800 1.000 2 2011 2019
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