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: rs967461896
rs967461896
TP53
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs28934575
rs28934575
TP53
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
dbSNP: rs3136038
rs3136038
ERCC4
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs764664272
rs764664272
MMP2
2 1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs778826879
rs778826879
MAPK3
3 16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2006 2006
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: rs2168351
rs2168351
ST8SIA2
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs3764221
rs3764221
CYP19A1
1 15 51296650 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3784730
rs3784730
ST8SIA2
6 0.851 0.120 15 92443898 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8038415
rs8038415
IGF1R
1 15 98956205 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs767808984
rs767808984
NKX2-1 ; SFTA3 ; NKX2-1-AS1
9 0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.070 1.000 7 2012 2020
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.040 1.000 4 2016 2018
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.020 1.000 2 2016 2016
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
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: 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: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2279574
rs2279574
DUSP6
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2018 2018