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: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.800 0.800 10 1997 2004
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.770 1.000 7 2007 2019
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.750 1.000 5 2007 2019
dbSNP: rs10795668
rs10795668
LOC105376400
0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.720 1.000 2 2008 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.720 1.000 2 2008 2019
dbSNP: rs10411210
rs10411210
RHPN2
0.742 0.160 19 33041394 intron variant C/T snv 0.22
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2019
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2010 2017
dbSNP: rs16892766
rs16892766 		0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2019
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2004 2004
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2011 2016
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2015 2015
dbSNP: rs4444235
rs4444235 		0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2019
dbSNP: rs4779584
rs4779584 		0.732 0.160 15 32702555 intergenic variant T/C snv 0.67
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2015
dbSNP: rs56848936
rs56848936
SYMPK
0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2017 2017
dbSNP: rs7758229
rs7758229
SLC22A3
0.732 0.120 6 160419220 intron variant G/A;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2011 2011
dbSNP: rs961253
rs961253 		0.732 0.240 20 6423634 intergenic variant C/A snv 0.34
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2019
dbSNP: rs9929218
rs9929218
CDH1
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 0.943 35 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 0.943 35 2004 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 1.000 11 2003 2015
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 1.000 11 2012 2018
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.090 0.889 9 2004 2014
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.050 1.000 5 2006 2019
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.040 0.500 4 2005 2009