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: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.929 14 2003 2019
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.846 13 2003 2018
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: 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: rs459552
rs459552
APC
0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 1.000 7 2003 2019
dbSNP: rs1052748
rs1052748
PLD2
0.925 0.080 17 4817174 missense variant C/T snv 0.39 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.975 150 2004 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.973 149 2004 2020
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.833 24 2004 2016
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.933 15 2004 2018
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: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 1.000 4 2004 2011
dbSNP: rs1418586322
rs1418586322
MLH1
0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2004 2007
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2004 2017
dbSNP: rs56053615
rs56053615
OGG1
0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2004 2016
dbSNP: rs587782868
rs587782868
APC
0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2004 2005
dbSNP: rs1386661424
rs1386661424
FOLH1
1.000 0.080 11 49164726 missense variant C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs143353451
rs143353451
MUTYH
0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs175080
rs175080
MLH3
0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs2229080
rs2229080
DCC
0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs28756992
rs28756992
MLH3
0.925 0.080 14 75047123 missense variant T/C snv 1.1E-02 1.5E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004