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: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.090 0.889 9 2010 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2016 2019
dbSNP: rs144460286
rs144460286
EGFR
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs1023741
rs1023741
PIK3AP1
1 1.000 0.080 10 96663139 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1049550
rs1049550
ANXA11
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs10920654
rs10920654
BRINP3
1 1.000 0.080 1 190162620 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs111861762
rs111861762
UGT1A10 ; UGT1A8 ; UGT1A9
1 1.000 0.080 2 233672556 missense variant C/T snv 1.0E-04 3.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1145724
rs1145724 		1 1.000 0.080 6 90477791 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11574077
rs11574077
VDR
1 1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs11692021
rs11692021
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
3 1.000 0.080 2 233682559 missense variant T/C snv 0.35 0.34 0.010 1.000 1 2014 2014
dbSNP: rs11692570
rs11692570
MIR7515HG
1 1.000 0.080 2 6637860 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11918092
rs11918092
EPHB1
2 0.925 0.120 3 134794514 intron variant C/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12949587
rs12949587
RBFOX3
1 1.000 0.080 17 79365094 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs13402783
rs13402783
ATOH8
1 1.000 0.080 2 85787998 3 prime UTR variant A/G snv 8.7E-02 0.700 1.000 1 2019 2019