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: rs9370729
rs9370729 		1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs909253
rs909253
LTA ; LOC100287329
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs863225307
rs863225307
APC
1 5 112819077 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 1.000 1 2005 2005
dbSNP: rs8038415
rs8038415
IGF1R
1 15 98956205 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs782212015
rs782212015
CEACAM5
1 19 41721077 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs779577244
rs779577244
KIF5B ; LOC107984219
1 10 32017334 missense variant C/A snv 4.0E-06 0.010 1.000 1 2019 2019
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: 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: rs766779326
rs766779326
ESR1
2 1.000 0.040 6 151944344 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
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: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.080 1.000 8 2007 2016
dbSNP: rs759435862
rs759435862
KIDINS220
5 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 0.020 1.000 2 2011 2016
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs755683317
rs755683317
TPTE
3 21 10567746 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs753152604
rs753152604
CDK4
7 0.827 0.040 12 57751680 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs751144688
rs751144688
CD44
4 1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs750749
rs750749 		1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009