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: rs2074087
rs2074087
ABCC1
3 0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 0.010 1.000 1 2013 2013
dbSNP: rs7311358
rs7311358
SLCO1B3 ; SLCO1B3-SLCO1B7
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2017 2017
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs2244613
rs2244613
CES1
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2015 2015
dbSNP: rs10824095
rs10824095
ADK
2 0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67 0.010 1.000 1 2015 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 2014
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2009 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2020 2020
dbSNP: rs7761731
rs7761731
CYP39A1
2 0.925 0.040 6 46596080 missense variant A/G;T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2010 2010
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
dbSNP: rs3087403
rs3087403
REV1
2 0.925 0.040 2 99442408 missense variant C/T snv 0.28 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2067079
rs2067079
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD77 ; SNORD78 ; SNORA103
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2006 2006
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2013 2013
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2007 2007
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2009 2019
dbSNP: rs11706052
rs11706052
IMPDH2
3 0.882 0.080 3 49026677 intron variant A/G snv 8.3E-02 7.6E-02 0.010 1.000 1 2010 2010