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: rs149091175
rs149091175
CYP3A43
2 0.925 0.080 7 99863601 stop gained C/T snv 3.2E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs680055
rs680055
CYP3A43
5 0.851 0.120 7 99859982 missense variant C/A;G snv 6.5E-02 0.13 0.010 1.000 1 2005 2005
dbSNP: rs800672
rs800672
CYP3A43
2 0.925 0.080 7 99838575 intron variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.020 1.000 2 2013 2014
dbSNP: rs11902236
rs11902236
GRHL1
2 0.925 0.080 2 9977740 intron variant C/T snv 0.36 0.700 1.000 2 2013 2018
dbSNP: rs775220785
rs775220785
CYP3A4
4 0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 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 2019 2019
dbSNP: rs2684788
rs2684788
IGF1R
2 0.925 0.080 15 98961208 3 prime UTR variant C/T snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs12618769
rs12618769
MGAT4A
3 0.882 0.120 2 98623468 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs2405942
rs2405942
SHROOM2
2 0.925 0.080 X 9846095 intron variant G/A snv 0.700 1.000 2 2013 2018
dbSNP: rs6465657
rs6465657
LMTK2
7 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.700 1.000 3 2008 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2003 2015
dbSNP: rs1424375643
rs1424375643
OGG1
2 0.925 0.080 3 9751856 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs125701
rs125701
OGG1
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.020 1.000 2 2011 2015
dbSNP: rs75718479
rs75718479
RMST
1 1.000 0.080 12 97483128 intron variant C/A snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs750392184
rs750392184
PIK3CD
3 0.882 0.160 1 9724850 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs1978331
rs1978331
LTA4H
5 0.827 0.200 12 96015423 intron variant A/G snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2008 2019
dbSNP: rs72552787
rs72552787
PON1
2 0.925 0.080 7 95315388 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2008 2019
dbSNP: rs1434536
rs1434536
BMPR1B
2 0.925 0.080 4 95154814 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs17021918
rs17021918
PDLIM5
8 0.776 0.240 4 94641726 intron variant C/T snv 0.30 0.700 1.000 2 2009 2018