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: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0.941 13 2002 2019
dbSNP: rs10795668
rs10795668
LOC105376400
0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 12 2008 2019
dbSNP: rs4444235
rs4444235 		0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 12 2008 2019
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 11 2007 2018
dbSNP: rs16892766
rs16892766 		0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 11 2008 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.818 11 2006 2019
dbSNP: rs1801166
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.909 11 2000 2016
dbSNP: rs1060503115
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.900 10 2008 2019
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 1.000 10 2004 2019
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.800 10 2003 2010
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.900 10 2012 2020
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.890 0.938 9 2007 2019
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.778 9 2008 2017
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.889 9 2006 2013
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.778 9 2010 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.889 9 2007 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.889 9 2013 2017
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 0.875 8 2011 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 0.875 8 2003 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 1.000 8 2012 2019
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.780 1.000 8 2007 2018
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 1.000 8 2005 2016
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 1.000 8 2007 2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 1.000 7 2008 2017
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 0.714 7 2005 2013