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: rs4074
rs4074
CXCL1
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs2234671
rs2234671
CXCR1
7 0.807 0.240 2 218164385 missense variant C/G snv 9.1E-02 0.11 0.010 1.000 1 2013 2013
dbSNP: rs4646437
rs4646437
CYP3A4
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1140409
rs1140409
DDX5 ; MIR3064
2 0.925 0.080 17 64500552 missense variant A/C snv 5.4E-02 5.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs5998152
rs5998152
DEPDC5
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs10053538
rs10053538
HAVCR2
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs755284374
rs755284374
HFE
3 0.882 0.120 6 26093122 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.963 27 2000 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.090 0.889 9 2001 2011
dbSNP: rs1431315635
rs1431315635
HFE ; LOC108783645
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 < 0.001 1 2011 2011
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020