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: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.090 1.000 9 2001 2019
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: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.850 0.667 6 2006 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2008 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 12 2008 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs180223
rs180223
TG
2 0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58 0.010 1.000 1 2008 2008
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2008 2008
dbSNP: rs2268458
rs2268458
TSHR
2 0.925 0.120 14 80996551 intron variant T/C snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs853326
rs853326
TG
3 0.882 0.120 8 132897729 missense variant A/G snv 0.58 0.60 0.010 1.000 1 2008 2008
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2009 2009
dbSNP: rs111033243
rs111033243
SLC26A4
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
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: rs12730735
rs12730735
PTPN22 ; AP4B1-AS1
1 1.000 0.040 1 113838835 intron variant T/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2298213
rs2298213
TNFRSF18
1 1.000 0.040 1 1203822 synonymous variant T/C snv 9.1E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs3753348
rs3753348
TNFRSF18
2 0.925 0.080 1 1208277 upstream gene variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6887695
rs6887695 		14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2012 2018
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: rs12101255
rs12101255
TSHR
2 0.925 0.120 14 80984708 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1269486
rs1269486
GATA3 ; GATA3-AS1 ; LOC107984204
2 0.925 0.120 10 8054236 intron variant A/G snv 0.77 0.010 1.000 1 2012 2012