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 0.820 1.000 12 2008 2019
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.810 1.000 6 2010 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 2010 2019
dbSNP: rs2728125
rs2728125 		3 0.925 0.120 4 88080741 downstream gene variant A/G snv 8.2E-02 0.800 1.000 5 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 5 2010 2019
dbSNP: rs10011796
rs10011796
ABCG2
4 0.882 0.160 4 88169725 intron variant T/C;G snv 0.800 1.000 4 2010 2015
dbSNP: rs2725211
rs2725211
PKD2
3 0.925 0.120 4 88049223 intron variant C/T snv 7.8E-02 0.800 1.000 4 2010 2019
dbSNP: rs2728104
rs2728104
PKD2
3 0.925 0.120 4 88051854 intron variant T/C snv 8.7E-02 0.800 1.000 4 2010 2017
dbSNP: rs3114020
rs3114020
ABCG2
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.800 1.000 4 2010 2017
dbSNP: rs3775948
rs3775948
SLC2A9 ; LOC105374476
4 0.882 0.160 4 9993558 intron variant G/A;C snv 0.800 1.000 4 2010 2016
dbSNP: rs734553
rs734553
SLC2A9
7 0.851 0.240 4 9921380 intron variant G/A;T snv 0.800 1.000 4 2010 2013
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 4 2010 2017
dbSNP: rs1165176
rs1165176
SLC17A1
4 0.925 0.120 6 25830070 intron variant A/G snv 0.65 0.800 1.000 3 2010 2017
dbSNP: rs13129697
rs13129697
SLC2A9
5 0.925 0.120 4 9925343 intron variant T/G snv 0.39 0.800 1.000 3 2010 2013
dbSNP: rs1481012
rs1481012
ABCG2
6 0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02 0.800 1.000 3 2010 2013
dbSNP: rs4475146
rs4475146
SLC2A9
3 0.925 0.120 4 9945032 intron variant C/A snv 0.29 0.800 1.000 3 2010 2013
dbSNP: rs1171617
rs1171617
SLC16A9
3 0.925 0.120 10 59707424 intron variant G/A;T snv 0.800 1.000 2 2013 2019
dbSNP: rs13287980
rs13287980 		2 0.925 0.120 9 104561919 intergenic variant G/A snv 0.24 0.800 1.000 2 2010 2013
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 2 2010 2013
dbSNP: rs17074636
rs17074636 		2 0.925 0.120 4 183356978 regulatory region variant T/G snv 4.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs2168303
rs2168303 		2 0.925 0.120 18 60708701 intron variant A/G snv 2.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs3135753
rs3135753
FGFR2
2 0.925 0.120 10 121521144 intron variant T/C snv 4.0E-03 0.800 1.000 1 2013 2013
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.710 1.000 5 2008 2016
dbSNP: rs12498927
rs12498927
WDR1
3 0.925 0.120 4 10113899 intron variant A/G;T snv 0.51 0.710 1.000 3 2010 2016
dbSNP: rs7442295
rs7442295
SLC2A9
5 0.925 0.120 4 9964756 intron variant A/G snv 0.28 0.700 1.000 5 2008 2013