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: rs28930073
rs28930073
0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.720 1.000 2 1996 2008
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.853 34 1997 2017
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0.861 34 1997 2017
dbSNP: rs63750447
rs63750447
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 0.500 2 1998 2015
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.829 70 1999 2018
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0.923 13 1999 2020
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.050 0.600 5 1999 2013
dbSNP: rs1490204625
rs1490204625
0.925 0.160 5 87268486 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 0.500 2 1999 2019
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 < 0.001 1 1999 1999
dbSNP: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 1 1999 2012
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 < 0.001 1 1999 1999
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: rs4994
rs4994
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.806 31 2002 2019
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.882 17 2002 2019
dbSNP: rs34612342
rs34612342
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 13 2002 2019
dbSNP: rs36053993
rs36053993
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: rs56250509
rs56250509
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.050 1.000 5 2002 2008
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.040 0.750 4 2002 2017
dbSNP: rs1042028
rs1042028
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 0.667 3 2002 2011
dbSNP: rs770649674
rs770649674
APC
0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 1.000 3 2002 2005
dbSNP: rs9282861
rs9282861
0.658 0.440 16 28606193 missense variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 0.667 3 2002 2011
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 0.500 2 2002 2019
dbSNP: rs1237063529
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2002 2002
dbSNP: rs1259132664
rs1259132664
1.000 0.080 15 29054561 missense variant T/C snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2002 2002