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: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 1.000 58 2005 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 58 2005 2020
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 1.000 58 2005 2020
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 45 2006 2020
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.710 1.000 2 2016 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 14 2008 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 13 2008 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 13 2008 2019
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 5 2014 2019
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.730 0.750 4 2016 2019
dbSNP: rs7216064
rs7216064
BPTF
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 4 2012 2019
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2011 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 3 2009 2019
dbSNP: rs397517096
rs397517096
EGFR
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.020 1.000 2 2015 2019
dbSNP: rs4236709
rs4236709
NRG1
2 0.925 0.080 8 32552592 intron variant G/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs7741164
rs7741164
FOXP4-AS1
3 0.882 0.080 6 41525674 intron variant G/A snv 6.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs77468143
rs77468143 		2 0.925 0.080 15 49084427 intergenic variant T/C;G snv 0.700 1.000 2 2017 2019
dbSNP: rs10213865
rs10213865
IL7R ; LOC105374724
5 0.827 0.120 5 35857748 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10429489
rs10429489 		2 0.925 0.080 9 21787522 intergenic variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1200399
rs1200399
BAZ1A
2 0.925 0.080 14 34823979 intron variant C/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs17038564
rs17038564
ACTR2
1 1.000 0.040 2 65268924 3 prime UTR variant A/G snv 5.3E-02 0.700 1.000 1 2019 2019