Disease: Colorectal Carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3747093
YDJC
0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs4998557
SOD1
0.851 0.080 21 31662579 intron variant G/A snv 0.22 4
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2424913
DNMT3B
0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 18
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1051690
INSR
0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 4
rs10680577
RAB4B-EGLN2 ; EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
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
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs2288947
TINCR
0.827 0.160 19 5562104 3 prime UTR variant G/A snv 0.45 5
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
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
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs895819
MIR23A ; LOC284454 ; MIR27A ; MIR24-2
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214