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: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs16867253
rs16867253
GRHL1
7 0.851 0.120 2 9956965 intron variant G/T snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs1805217
rs1805217 		1 1.000 0.080 21 9885601 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs12908437
rs12908437
IGF1R
5 0.882 0.200 15 98744146 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4965430
rs4965430
IGF1R
3 0.882 0.200 15 98725621 intron variant C/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2660304
rs2660304
MIR137HG ; MIR137 ; MIR2682
2 0.925 0.120 1 98046571 non coding transcript exon variant G/T snv 0.83 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs10821415
rs10821415
AOPEP
1 1.000 0.080 9 94951177 intron variant C/A snv 0.34 0.810 1.000 3 2012 2018
dbSNP: rs4385527
rs4385527
AOPEP
6 0.827 0.280 9 94886305 intron variant G/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs7026071
rs7026071
AOPEP
1 1.000 0.080 9 94730238 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs4905014
rs4905014
ITPK1
16 0.851 0.120 14 92945686 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11773884
rs11773884
CDK6
1 1.000 0.080 7 92655809 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs56201652
rs56201652
CDK6
1 1.000 0.080 7 92648802 intron variant G/A snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs7632427
rs7632427 		2 0.925 0.160 3 89485227 downstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs6771054
rs6771054
EPHA3
1 1.000 0.080 3 89440379 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4148738
rs4148738
ABCB1
2 0.925 0.120 7 87533733 intron variant C/T snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs58238559
rs58238559
ABCB4
3 0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs6907805
rs6907805 		1 1.000 0.080 6 87146285 downstream gene variant G/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs2031522
rs2031522 		1 1.000 0.080 6 87111783 intergenic variant A/G snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs72926475
rs72926475 		1 1.000 0.080 2 86367364 downstream gene variant G/A snv 0.14 0.700 1.000 2 2018 2018
dbSNP: rs2592551
rs2592551
GGCX
1 1.000 0.080 2 85553008 synonymous variant G/A snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs8082812
rs8082812 		16 0.851 0.120 18 8522684 intergenic variant C/A snv 4.6E-02 0.700 1.000 1 2016 2016