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: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2009 2009
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: 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: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2014 2014
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: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2015 2015
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: rs72661131
rs72661131
MBL2
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs4135385
rs4135385
CTNNB1
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2015 2015
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: rs562962093
rs562962093
MBL2
13 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.800 1.000 26 2014 2020
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.020 1.000 2 2014 2017
dbSNP: rs1799853
rs1799853
CYP2C9
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2014 2014
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: rs563558831
rs563558831
CYP2B6
11 0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
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: 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: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
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: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs10509681
rs10509681
CYP2C8
8 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2018 2018