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: rs113577745
rs113577745
GRHL1
1 1.000 0.080 2 9995553 intron variant C/G snv 8.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs148972953
rs148972953
LAMTOR3
3 0.925 0.080 4 99881589 3 prime UTR variant A/G snv 8.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2019 2019
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2242480
rs2242480
CYP3A4
5 0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32 0.020 1.000 2 2017 2019
dbSNP: rs4986910
rs4986910
CYP3A4
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs45446698
rs45446698
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
9 0.807 0.120 7 99735325 upstream gene variant T/G snv 2.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs11298677
rs11298677
COL8A1
1 1.000 0.080 3 99682866 intron variant G/- delins 0.60 0.700 1.000 1 2017 2017
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs200764640
rs200764640
CYP3A5 ; ZSCAN25
2 0.925 0.080 7 99666641 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10273424
rs10273424
TMEM225B
3 0.925 0.080 7 99598450 intron variant T/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs10235235
rs10235235
ZNF394 ; ZNF789
4 0.925 0.080 7 99478208 intron variant T/C snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1045012
rs1045012
ARPC1B
2 0.925 0.080 7 99386731 missense variant G/C snv 5.6E-02 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1693482
rs1693482
ADH1B ; ADH1C
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2010 2010
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs334348
rs334348
TGFBR1
5 0.851 0.160 9 99150189 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1178346731
rs1178346731
TGFBR1
2 0.925 0.080 9 99144783 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.010 < 0.001 1 2018 2018
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.020 1.000 2 2017 2019
dbSNP: rs12916884
rs12916884
IGF1R
2 0.925 0.080 15 98944659 intron variant G/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11635251
rs11635251
IGF1R
2 0.925 0.080 15 98937442 intron variant A/G snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs12439557
rs12439557
IGF1R
2 0.925 0.080 15 98771553 intron variant T/C snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs8032477
rs8032477
IGF1R
4 0.851 0.200 15 98711325 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
4 0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs79518236
rs79518236
BAIAP2L1
1 1.000 0.080 7 98397243 intron variant CT/- delins 0.24 0.700 1.000 1 2017 2017