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: rs530670052
rs530670052
APC
0.925 0.080 5 112801313 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs61886492
rs61886492
FOLH1
0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs63749984
rs63749984
MSH2
0.925 0.160 2 47410340 stop gained G/C;T snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs757333753
rs757333753
RAF1
0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs765480781
rs765480781
MLH1
1.000 0.080 3 37050648 missense variant T/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.500 18 2005 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.800 15 2005 2019
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: 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
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 0.857 7 2005 2014
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 0.833 6 2005 2014
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 0.667 6 2005 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.050 1.000 5 2005 2015
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 1.000 4 2005 2012
dbSNP: rs1566734
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.730 0.667 3 2005 2019
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.820 1.000 2 2005 2016
dbSNP: rs1245554802
rs1245554802
OGG1 ; CAMK1
0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2005 2009
dbSNP: rs486907
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2005 2007
dbSNP: rs758272654
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2005 2007
dbSNP: rs771306418
rs771306418
OGG1 ; CAMK1
0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2005 2009
dbSNP: rs34296044
rs34296044
EXO1
0.925 0.080 1 241885371 frameshift variant C/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs351855
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs4149963
rs4149963
EXO1
0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
0.851 0.200 2 47800966 stop gained G/A;C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs9350
rs9350
EXO1
0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2005 2005