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: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 12 2006 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.900 10 2012 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.900 10 2012 2019
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.050 1.000 5 2010 2018
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.050 1.000 5 2010 2018
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.050 1.000 5 2010 2018
dbSNP: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs10036653
rs10036653
ATG10
4 0.851 0.160 5 81970563 upstream gene variant A/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913418
rs121913418
EGFR
3 0.882 0.160 7 55174818 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12913975
rs12913975
SMAD6
2 0.925 0.160 15 66764823 intron variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs17368584
rs17368584
ST6GALNAC5
1 1.000 0.120 1 76930481 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2494732
rs2494732
AKT1
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2013 2013
dbSNP: rs26532
rs26532
ATG12
1 1.000 0.120 5 115837981 non coding transcript exon variant C/A snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs26865
rs26865
MLST8
2 0.925 0.160 16 2203772 upstream gene variant A/G snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs3160
rs3160
MLST8 ; BRICD5
3 0.925 0.160 16 2209190 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs3809865
rs3809865
ITGB3 ; THCAT158
11 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4760259
rs4760259
GLI1
2 0.925 0.160 12 57467043 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4803455
rs4803455
TGFB1
11 0.752 0.280 19 41345604 intron variant C/A snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs751688663
rs751688663
ATG7
7 0.807 0.280 3 11340656 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017