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 0.020 1.000 2 2012 2013
dbSNP: rs3024490
rs3024490
IL10 ; IL19
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2617160
rs2617160
KLRC4-KLRK1 ; LOC101928100
1 1.000 0.080 12 10392998 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.760 1.000 8 2011 2017
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.760 1.000 8 2011 2017
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3106796
rs3106796
COL3A1 ; LOC105373791
3 0.882 0.160 2 188985047 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs4845384
rs4845384
ADAR
1 1.000 0.080 1 154615193 intron variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs4935047
rs4935047
MBL2
1 1.000 0.080 10 52770307 intron variant A/G snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2015 2015
dbSNP: rs9275319
rs9275319 		6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs7453920
rs7453920
HLA-DQB2
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.720 1.000 5 2013 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800630
rs1800630
LTA ; TNF ; LOC100287329
17 0.701 0.480 6 31574699 upstream gene variant C/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3775290
rs3775290
TLR3
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs7712322
rs7712322
POLR3G
1 1.000 0.080 5 90482078 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2013 2015
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs705382
rs705382
PON1
5 0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.020 1.000 2 2013 2018
dbSNP: rs12614
rs12614
CFB ; CYP21A2
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2015 2015