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: rs4986910
rs4986910
CYP3A4
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 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: rs768288280
rs768288280
DPYD
2 1.000 0.080 1 97740403 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs397518423
rs397518423
PIK3CD
10 0.790 0.240 1 9726972 missense variant G/A 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 0.010 1.000 1 2014 2014
dbSNP: rs2274407
rs2274407
ABCC4
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs766715154
rs766715154
ABCC4
1 13 95206759 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs218916
rs218916 		2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs160441
rs160441 		2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
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 2016 2016
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7694379
rs7694379 		3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs9574547
rs9574547 		1 13 80057282 intron variant C/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1554162524
rs1554162524
ELOVL4
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
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: rs735239
rs735239
CD209
5 0.851 0.240 19 7748382 upstream gene variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs2287886
rs2287886
CD209
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 2019
dbSNP: rs779449782
rs779449782
VWF
1 12 6057915 missense variant G/A;C snv 1.6E-05 1.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.010 1.000 1 2010 2010