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: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 14 2008 2019
dbSNP: rs3775948
rs3775948
SLC2A9 ; LOC105374476
4 0.882 0.160 4 9993558 intron variant G/A;C snv 0.800 1.000 8 2009 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2009 2019
dbSNP: rs13129697
rs13129697
SLC2A9
5 0.925 0.120 4 9925343 intron variant T/G snv 0.39 0.800 1.000 6 2009 2018
dbSNP: rs2078267
rs2078267
SLC22A11
3 0.925 0.120 11 64566642 non coding transcript exon variant C/T snv 0.37 0.800 1.000 6 2009 2019
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.800 1.000 5 2008 2016
dbSNP: rs1165196
rs1165196
SLC17A1
5 0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66 0.800 1.000 4 2009 2018
dbSNP: rs11722228
rs11722228
SLC2A9
6 0.851 0.160 4 9914117 intron variant C/T snv 0.32 0.800 1.000 4 2009 2019
dbSNP: rs2199936
rs2199936
ABCG2
5 0.882 0.160 4 88124179 intron variant A/G;T snv 0.88 0.700 1.000 4 2010 2019
dbSNP: rs4148155
rs4148155
ABCG2
5 0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02 0.800 1.000 4 2009 2019
dbSNP: rs6449213
rs6449213
SLC2A9 ; LOC105374476
7 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.800 1.000 4 2009 2017
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 3 2018 2019
dbSNP: rs13111638
rs13111638
SLC2A9 ; LOC105374476
4 0.882 0.200 4 9995266 intron variant T/C snv 0.82 0.800 1.000 3 2009 2018
dbSNP: rs1471633
rs1471633 		3 0.925 0.120 1 145711327 upstream gene variant T/G snv 0.43 0.800 1.000 3 2009 2019
dbSNP: rs1481012
rs1481012
ABCG2
6 0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02 0.800 1.000 3 2009 2019
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 3 2013 2019
dbSNP: rs1828911
rs1828911
HNF4G
1 8 75550312 intron variant T/C;G snv 0.700 1.000 3 2018 2019
dbSNP: rs1967017
rs1967017 		5 0.882 0.160 1 145711421 upstream gene variant A/G snv 0.43 0.800 1.000 3 2009 2015
dbSNP: rs2054576
rs2054576
ABCG2
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.800 1.000 3 2009 2019
dbSNP: rs2307394
rs2307394
ORC4
3 0.925 0.120 2 147958859 missense variant T/A;C;G snv 0.36; 8.4E-06 0.700 1.000 3 2013 2019
dbSNP: rs2762353
rs2762353
SLC17A1
5 0.882 0.200 6 25794203 intron variant A/G snv 0.66 0.800 1.000 3 2009 2019
dbSNP: rs3114018
rs3114018
ABCG2
4 0.882 0.160 4 88143429 intron variant A/C snv 0.48 0.800 1.000 3 2009 2018
dbSNP: rs505802
rs505802
SLC22A12
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.800 1.000 3 2009 2019
dbSNP: rs6026578
rs6026578
GNAS ; LOC101927932
4 20 58888417 5 prime UTR variant C/G snv 0.60 0.700 1.000 3 2018 2019
dbSNP: rs675209
rs675209 		5 0.882 0.160 6 7101851 intergenic variant T/C snv 0.64 0.700 1.000 3 2010 2019