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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
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: 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: 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: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2011 2011
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.050 1.000 5 2012 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2013
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: 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: rs9277542
rs9277542
HLA-DPB1
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2856718
rs2856718 		8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.730 1.000 5 2013 2017
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: 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: 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: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
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: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2013 2013
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: rs7095891
rs7095891
MBL2
3 0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30 0.010 < 0.001 1 2013 2013