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: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 < 0.001 1 2019 2019
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 < 0.001 1 2013 2013
dbSNP: rs4149570
rs4149570
TNFRSF1A
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2014 2020
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2014 2020
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: 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: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.020 1.000 2 2014 2017
dbSNP: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
STAT3
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.020 1.000 2 2014 2015
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: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1061501
rs1061501
IRF7
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2019 2019
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.010 1.000 1 2016 2016
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
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