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: rs2267716
rs2267716
CRHR2
4 0.851 0.120 7 30677027 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs1993116
rs1993116
CYP2R1
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs11697186
rs11697186
DDRGK1
1 1.000 0.080 20 3204477 intron variant A/C;T snv 7.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs9695310
rs9695310
DDX58
4 0.851 0.120 9 32464137 intron variant G/C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs5998152
rs5998152
DEPDC5
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs10789491
rs10789491
EFCAB14
1 1.000 0.080 1 46713638 intron variant A/G snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs11506105
rs11506105
EGFR
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 1999 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 1998 2020
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs4803217
rs4803217
IFNL3
4 0.882 0.120 19 39243580 3 prime UTR variant C/A snv 0.39 0.020 1.000 2 2015 2017
dbSNP: rs28416813
rs28416813
IFNL3
1 1.000 0.080 19 39245004 5 prime UTR variant C/G snv 0.31 0.39 0.700 1.000 1 2009 2009
dbSNP: rs8103142
rs8103142
IFNL3
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.700 1.000 1 2009 2009
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.900 1.000 41 2009 2020
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.060 1.000 6 2014 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2018 2018