Disease: Primary malignant neoplasm of lung
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1800734
EPM2AIP1 ; MLH1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30