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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.980 51 2005 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.980 51 2005 2020
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 0.833 6 2012 2020
dbSNP: rs118049207
rs118049207
SND1
0.925 0.080 7 127890817 intron variant A/G snv 1.7E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs2070804
rs2070804
HSPB1
0.925 0.080 7 76304395 downstream gene variant T/G snv 0.13
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs2470151
rs2470151
CYP19A1 ; MIR7973-2
0.925 0.080 15 51314872 intron variant C/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 2020 2020
dbSNP: rs2555639
rs2555639 		0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.933 15 2007 2019
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 1.000 13 2010 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 1.000 6 2012 2019
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 0.833 6 2014 2019
dbSNP: rs4444235
rs4444235 		0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.050 1.000 5 2012 2019
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2014 2019
dbSNP: rs459552
rs459552
APC
0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2004 2019
dbSNP: rs12255372
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2016 2019
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2012 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2002 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2018 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2018 2019
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
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: 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: rs1503185
rs1503185
PTPRJ
0.807 0.120 11 48125070 missense variant G/A snv 0.18 0.19
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2010 2019