Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6702619
rs6702619
LINC01708
0.851 0.200 1 99580690 intron variant T/G snv 0.35
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2006 2016
dbSNP: rs1590
rs1590
TGFBR1
0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2015 2018
dbSNP: rs3808348
rs3808348
CYP2W1 ; C7orf50
0.925 0.080 7 988812 missense variant C/T snv 0.21 0.17
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2010 2010
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs376040996
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1245554802
rs1245554802
OGG1 ; CAMK1
0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2005 2009
dbSNP: rs771306418
rs771306418
OGG1 ; CAMK1
0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2005 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.538 13 2005 2015
dbSNP: rs56053615
rs56053615
OGG1
0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs180040
rs180040 		0.882 0.120 15 97027933 intergenic variant T/C snv 0.85
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs854560
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs3742330
rs3742330
DICER1
0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs76328980
rs76328980
HPGDS
0.925 0.080 4 94299521 missense variant C/T snv 7.6E-03 1.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2012 2012
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs1428
rs1428
MIR17HG
0.882 0.200 13 91354516 non coding transcript exon variant C/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs17735387
rs17735387
MIR17HG
0.925 0.080 13 91353800 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs7318578
rs7318578
MIR17HG
0.925 0.080 13 91353215 intron variant C/A snv 0.65
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs7336610
rs7336610
MIR17HG
0.827 0.240 13 91352883 intron variant C/T snv 0.47
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2015 2016