Disease: Colorectal Carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs454886
APC
0.763 0.280 5 112810420 intron variant A/G snv 0.26 10
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1048945
APEX1 ; OSGEP
0.851 0.120 14 20456008 missense variant G/C snv 2.1E-02 2.4E-02 6
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs1800056
ATM
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03 6
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 11
rs758081262
ATM
0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 4
rs768362387
ATM
0.851 0.360 11 108253846 stop gained C/A snv 5
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs1044129
AVEN ; RYR3
0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 9
rs2240308
AXIN2
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs730882193
AXIN2
0.807 0.200 17 65536472 stop gained C/G;T snv 6
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs4808075
BABAM1 ; USHBP1
0.701 0.280 19 17279482 intron variant T/C snv 0.26 18
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41