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: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs12541709
rs12541709
TNKS
2 1.000 0.080 8 9751081 intron variant C/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.010 1.000 1 2005 2005
dbSNP: rs12613347
rs12613347
CASP10
1 2 201190589 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1347093
rs1347093
MIR217HG ; LOC105374690
4 0.882 0.080 2 56019205 intron variant G/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs138895564
rs138895564
TERT
4 0.882 0.080 5 1271959 intron variant C/T snv 5.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs1397529
rs1397529
GAB1
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139852726
rs139852726
LPCAT1
4 0.882 0.080 5 1462734 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs143752852
rs143752852
MST1R ; LOC102724438
1 3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs1443465532
rs1443465532
VEGFA
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs150423237
rs150423237
EGFR
1 7 55173087 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs16906079
rs16906079
TLR4
1 9 117712651 missense variant A/G snv 6.5E-04 4.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2009 2009
dbSNP: rs17429138
rs17429138
LOC107986169
1 3 189527804 intergenic variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2013 2013