Source: BEFREE

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: rs12904
rs12904
EFNA1 ; SLC50A1
0.827 0.160 1 155134221 3 prime UTR variant G/A snv 0.40
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2013 2019
dbSNP: rs1329149
rs1329149
CYP2E1
0.925 0.080 10 133536297 intron variant T/C snv 0.73
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2012
dbSNP: rs1342387
rs1342387
ADIPOR1
0.776 0.120 1 202945228 intron variant T/C snv 0.53
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2015
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2017 2018
dbSNP: rs16892766
rs16892766 		0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2010 2015
dbSNP: rs17281995
rs17281995
CD86
0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2011 2014
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
0.507 0.800 1 206773552 intron variant T/C snv 0.41
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2014
dbSNP: rs1801157
rs1801157
CXCL12
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2007 2018
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2019 2019
dbSNP: rs2276466
rs2276466
ERCC4
0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2014 2015
dbSNP: rs2298881
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2015
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
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2012 2015
dbSNP: rs3789243
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2009 2013
dbSNP: rs3834129
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2018
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2012 2019
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2011
dbSNP: rs4646903
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2016 2017
dbSNP: rs4779584
rs4779584 		0.732 0.160 15 32702555 intergenic variant T/C snv 0.67
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2015
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: rs6498486
rs6498486
ERCC4
0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2019
dbSNP: rs6687758
rs6687758 		0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2012 2018
dbSNP: rs712
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2019
dbSNP: rs719725
rs719725 		0.827 0.080 9 6365683 intergenic variant A/C snv 0.34
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2010 2011