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: 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: rs4148396
rs4148396
ABCC2
2 0.925 0.040 10 99832187 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
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: rs1885301
rs1885301
ABCC2
2 0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
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: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
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: rs17376848
rs17376848
DPYD
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs3918290
rs3918290
DPYD
3 0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
dbSNP: rs67376798
rs67376798
DPYD
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.030 1.000 3 2014 2019
dbSNP: rs9561778
rs9561778
ABCC4
4 0.851 0.120 13 95061461 intron variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581
CYP2C19
3 0.925 0.040 10 94842866 missense variant A/G snv 0.95 0.010 1.000 1 2017 2017
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: rs4240803
rs4240803
SLC7A5 ; LOC107987237
4 0.851 0.240 16 87855597 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11141915
rs11141915
DAPK1
3 0.882 0.160 9 87620879 intron variant A/C snv 0.25 0.010 1.000 1 2012 2012
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: rs12720066
rs12720066
ABCB1
2 0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02 0.010 1.000 1 2018 2018
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: 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: rs3825876
rs3825876
SLC28A1
2 0.925 0.040 15 84892637 intron variant G/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2012 2012
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