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: rs211105
rs211105
TPH1
4 1.000 11 18033757 intron variant T/G snv 0.19 0.020 1.000 2 2015 2018
dbSNP: rs10474485
rs10474485
CRHBP
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs12462111
rs12462111
NTN5 ; SEC1P
2 19 48668049 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs12513549
rs12513549
MSH3
1 5 80781309 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs17868320
rs17868320
UGT1A10 ; UGT1A8
1 2 233669782 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs2151222
rs2151222
IKBKE
1 1 206480926 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
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: rs33013
rs33013
MSH3
1 5 80764197 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs35106244
rs35106244
FUT2
2 19 48700572 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
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: rs6151627
rs6151627
MSH3
1 5 80669717 intron variant A/G snv 0.23 0.010 1.000 1 2019 2019
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: rs8111874
rs8111874
NTN5 ; SEC1P
1 19 48665685 intron variant G/A snv 0.32 0.710 1.000 1 2016 2016
dbSNP: rs9351963
rs9351963
KCNQ5
1 6 73040138 intron variant A/C snv 0.19 0.010 1.000 1 2014 2014
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: rs370244148
rs370244148
WNT2B
6 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs752914124
rs752914124
SGSH
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 0
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: 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: 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: rs1042597
rs1042597
UGT1A8
3 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1050274678
rs1050274678
SLC19A1
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2018 2018