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 0.100 0.909 11 2002 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.909 11 2002 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2018
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.060 1.000 6 2015 2017
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.050 1.000 5 2012 2019
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.050 1.000 5 2011 2017
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.040 1.000 4 2010 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.040 1.000 4 2017 2018
dbSNP: rs4282438
rs4282438
COL11A2P1
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.730 1.000 4 2013 2016
dbSNP: rs9272143
rs9272143
HLA-DQA1
3 0.882 0.080 6 32633026 intron variant T/C snv 0.49 0.720 1.000 4 2013 2017
dbSNP: rs13117307
rs13117307
EXOC1
6 0.827 0.080 4 55885574 intron variant C/T snv 0.21 0.720 1.000 3 2013 2017
dbSNP: rs2516448
rs2516448 		10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.720 1.000 3 2013 2016
dbSNP: rs3117027
rs3117027
HLA-DPB2
3 0.882 0.080 6 33121846 intron variant C/A;G snv 0.720 1.000 3 2013 2018
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.030 1.000 3 2012 2018
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.030 1.000 3 2015 2017
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2009 2017
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.030 1.000 3 2016 2018
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.720 1.000 3 2013 2016
dbSNP: rs11079454
rs11079454
BRIP1
3 0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv 0.020 0.500 2 2013 2016
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2015 2019
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 < 0.001 2 2014 2017
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016