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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
dbSNP: rs11935941
rs11935941
LOC107986195
2 1.000 0.040 4 148731326 intron variant A/C snv 0.31 0.010 1.000 1 2017 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: 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: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
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: 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: 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: 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
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: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2227478
rs2227478
IL22 ; LOC105369818
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs30461
rs30461
IFNL1
5 0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25 0.010 1.000 1 2016 2016
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs4411444
rs4411444
TSHR
2 0.925 0.120 14 80978764 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2012 2012
dbSNP: rs6543116
rs6543116
IL1RL1
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs7171171
rs7171171
LOC107984725
3 0.925 0.120 15 38614840 intergenic variant A/G snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2014 2014
dbSNP: rs756763
rs756763
CA10
2 1.000 0.040 17 51671952 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs7629750
rs7629750
TMEM39A
3 0.882 0.040 3 119455829 intron variant A/G snv 0.45 0.010 1.000 1 2019 2019
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: 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: 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