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: rs8187710
rs8187710
ABCC2
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs7660895
rs7660895
SLC2A9
5 0.882 0.200 4 9983821 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 < 0.001 1 2010 2010
dbSNP: rs55951658
rs55951658
CYP3A4
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs4646437
rs4646437
CYP3A4
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.020 1.000 2 2017 2019
dbSNP: rs2242480
rs2242480
CYP3A4
5 0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32 0.010 1.000 1 2019 2019
dbSNP: rs669676
rs669676
COL8A1
2 1.000 0.040 3 99730008 intron variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.040 0.500 4 2010 2019
dbSNP: rs4905794
rs4905794
LOC107984696
2 1.000 0.040 14 99013332 intergenic variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2654981
rs2654981
IGF1R
1 15 98961900 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1815009
rs1815009
IGF1R
3 0.925 0.080 15 98961442 3 prime UTR variant C/T snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2002880
rs2002880
IGF1R
2 1.000 0.080 15 98960516 3 prime UTR variant G/A snv 3.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs2229765
rs2229765
IGF1R
7 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2018 2018
dbSNP: rs2684761
rs2684761
IGF1R
1 15 98821141 intron variant A/G snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs187821766
rs187821766
STK3
3 8 98729050 intron variant C/T snv 3.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs13379905
rs13379905
IGF1R ; IRAIN
2 1.000 0.040 15 98649254 5 prime UTR variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs186208701
rs186208701
STK3
3 8 98567888 intron variant T/C snv 3.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs653747
rs653747
LINC00923
2 15 97659878 intron variant C/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs4910498
rs4910498
SWAP70
4 11 9743956 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2649044
rs2649044
SWAP70
4 11 9742422 intron variant C/T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs4857055
rs4857055
EPHA6
2 3 97192120 intron variant C/T snv 5.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs2927615
rs2927615
ERAP1
1 5 96862499 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2006 2019
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.010 1.000 1 2018 2018