Disease: Carcinogenesis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs763201736
MMP2
0.807 0.200 16 55498391 missense variant C/T snv 4.0E-06 8
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
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs146795390
EGFR
0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 8
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs775514340
CILK1
0.882 0.080 6 53041202 missense variant T/A;C snv 4.0E-06 5
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs6183
GHR
0.827 0.080 5 42718990 missense variant C/A snv 2.3E-03 7.4E-04 8
rs3136797
POLB
0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02 10
rs132770
DESI1 ; XRCC6
0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 14
rs2267437
DESI1 ; XRCC6
0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs5751129
XRCC6 ; DESI1
0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs7214723
CAMKK1
0.882 0.080 17 3872554 missense variant T/C snv 0.45 0.36 4
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1800625
AGER ; PBX2
0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39