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: rs17822471
rs17822471
ABCC11
1 1.000 0.040 16 48208468 missense variant G/A snv 5.1E-02 4.8E-02 0.020 1.000 2 2013 2017
dbSNP: rs763794263
rs763794263
ABCC8
1 1.000 0.040 11 17432232 missense variant G/A snv 6.3E-05 3.5E-05 0.020 1.000 2 2013 2017
dbSNP: rs1218899764
rs1218899764
DPYD
1 1.000 0.040 1 97515829 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1341929358
rs1341929358
NR1I3 ; TOMM40L
1 1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16957920
rs16957920 		1 1.000 0.040 13 87710848 intergenic variant G/C snv 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs200754866
rs200754866
ABCB1
1 1.000 0.040 7 87536484 missense variant C/A;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs2228075
rs2228075
IMPDH1
1 1.000 0.040 7 128394575 synonymous variant C/A;G;T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs586014
rs586014
RAD18
1 1.000 0.040 3 8965408 upstream gene variant A/G snv 0.82 0.010 1.000 1 2016 2016
dbSNP: rs618784
rs618784
RAD18
1 1.000 0.040 3 8962743 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs654448
rs654448
RAD18
1 1.000 0.040 3 8893530 intron variant C/T snv 0.85 0.010 1.000 1 2016 2016
dbSNP: rs669884
rs669884
XDH
1 1.000 0.040 2 31350126 missense variant G/A;C;T snv 4.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs6763823
rs6763823
RAD18
1 1.000 0.040 3 8892799 intron variant G/A;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs7320366
rs7320366
SUCLA2
1 1.000 0.040 13 47973332 missense variant A/G;T snv 8.0E-06; 0.75 0.010 1.000 1 2016 2016
dbSNP: rs7438135
rs7438135
UGT2B7
1 1.000 0.040 4 69095621 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs7574965
rs7574965
CROCC2 ; LOC112268440
1 1.000 0.040 2 240930976 synonymous variant C/A;T snv 2.8E-05; 6.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs762392769
rs762392769
FLT3
1 1.000 0.040 13 28018553 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs931572188
rs931572188
ACAD8
1 1.000 0.040 11 134256593 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs966923314
rs966923314
ABCB1
1 1.000 0.040 7 87601026 5 prime UTR variant T/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs9880051
rs9880051
RAD18
1 1.000 0.040 3 8962766 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7761731
rs7761731
CYP39A1
2 0.925 0.040 6 46596080 missense variant A/G;T snv 0.35 0.020 1.000 2 2012 2015
dbSNP: rs10824095
rs10824095
ADK
2 0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1110277
rs1110277
SLC23A2
2 0.925 0.080 20 4874036 synonymous variant A/G snv 0.34 0.43 0.010 1.000 1 2014 2014
dbSNP: rs11719165
rs11719165 		2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs117506642
rs117506642
LOC105376755
2 1.000 0.040 2 195143585 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117829974
rs117829974 		2 1.000 0.040 3 62886233 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018