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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs33013
rs33013
MSH3
1 5 80764197 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
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: rs4124874
rs4124874
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
8 0.851 0.120 2 233757013 intron variant T/A;G snv 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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs546983534
rs546983534
KLC1 ; XRCC3 ; LOC112268131
1 14 103708630 missense variant G/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs56038477
rs56038477
DPYD
1 1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
dbSNP: rs6151627
rs6151627
MSH3
1 5 80669717 intron variant A/G snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs72552763
rs72552763
SLC22A1
3 0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 0.010 1.000 1 2017 2017
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: rs745614189
rs745614189
ABCB1
1 7 87549387 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7548189
rs7548189
DPYD
4 0.882 0.160 1 97402157 intron variant C/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs769107320
rs769107320
UGT2B7
1 4 69108277 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs9351963
rs9351963
KCNQ5
1 6 73040138 intron variant A/C snv 0.19 0.010 1.000 1 2014 2014
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 2017
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.020 1.000 2 2006 2011
dbSNP: rs211105
rs211105
TPH1
4 1.000 11 18033757 intron variant T/G snv 0.19 0.020 1.000 2 2015 2018
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 0.500 2 2010 2010
dbSNP: rs67376798
rs67376798
DPYD
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.020 1.000 2 2014 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2006 2019
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.030 1.000 3 2016 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2009 2017
dbSNP: rs12462111
rs12462111
NTN5 ; SEC1P
2 19 48668049 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016