Disease: Malignant neoplasm of colon and/or rectum
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691029
TP53
0.827 0.160 17 7673794 missense variant C/G snv 6
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1800734
EPM2AIP1 ; MLH1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs3923087
AXIN2
0.827 0.160 17 65553143 intron variant T/C snv 0.58 5
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs6256
PTH
0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16 5
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72