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: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.100 1.000 10 2007 2019
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.020 1.000 2 2013 2014
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.020 1.000 2 2014 2019
dbSNP: rs10157822
rs10157822 		1 1.000 0.080 1 161242119 upstream gene variant T/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1042640
rs1042640
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
3 1.000 0.080 2 233772898 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10929303
rs10929303
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
3 1.000 0.080 2 233772770 3 prime UTR variant T/C snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs11045819
rs11045819
SLCO1B1
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113683735
rs113683735
HMOX1
2 0.925 0.080 22 35386751 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs2307424
rs2307424
NR1I3
1 1.000 0.080 1 161232815 synonymous variant G/A snv 0.35 0.29 0.010 1.000 1 2015 2015
dbSNP: rs33947415
rs33947415
HBB
3 0.882 0.120 11 5226684 missense variant C/G;T snv 9.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs368362776
rs368362776
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
3 0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4073054
rs4073054
NR1I3 ; TOMM40L
1 1.000 0.080 1 161230697 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs699512
rs699512
BLVRA ; LOC102724946
2 0.925 0.120 7 43771165 missense variant G/A snv 0.80 0.83 0.010 1.000 1 2019 2019
dbSNP: rs72554664
rs72554664
G6PD
3 0.882 0.160 X 154532257 missense variant C/T snv 5.5E-04 1.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs774010631
rs774010631
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
5 0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05 0.010 1.000 1 2011 2011