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: rs1329149
rs1329149
CYP2E1
0.925 0.080 10 133536297 intron variant T/C snv 0.73
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2012
dbSNP: rs719725
rs719725 		0.827 0.080 9 6365683 intergenic variant A/C snv 0.34
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2010 2011
dbSNP: rs756045117
rs756045117
MLH1
0.925 0.080 3 37012090 missense variant C/G;T snv 1.6E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2007 2015
dbSNP: rs10318
rs10318
GREM1
0.882 0.080 15 32733778 3 prime UTR variant C/T snv 0.16
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs1051424
rs1051424
RPS6KB1
0.925 0.080 17 59946963 3 prime UTR variant A/G snv 0.15
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1051690
rs1051690
INSR
0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs1052748
rs1052748
PLD2
0.925 0.080 17 4817174 missense variant C/T snv 0.39 0.36
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2003 2003
dbSNP: rs1057519860
rs1057519860
EGFR
0.851 0.080 7 55160316 missense variant C/A snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1063169
rs1063169
FOS
0.925 0.080 14 75280415 5 prime UTR variant G/T snv 0.12
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1064795841
rs1064795841
TP53
0.882 0.080 17 7674971 missense variant C/T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1065411
rs1065411
GSTM1 ; GSTM2
0.925 0.080 1 109690516 missense variant G/A;C;T snv 0.36; 6.9E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs10845671
rs10845671
GPRC5D-AS1
0.925 0.080 12 12926708 upstream gene variant C/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs10883782
rs10883782
WBP1L
0.925 0.080 10 102824175 intron variant A/G snv 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs1088967
rs1088967 		0.851 0.080 X 127010099 intergenic variant T/A;C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs11169552
rs11169552
ATF1
0.776 0.080 12 50761880 upstream gene variant C/T snv 0.23
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2012 2012
dbSNP: rs11568591
rs11568591
ABCC3
0.925 0.080 17 50683692 missense variant G/A snv 3.7E-02 3.9E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs115797771
rs115797771
KLF5
0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs116896264
rs116896264
LGALS4
0.925 0.080 19 38813176 upstream gene variant G/T snv 9.0E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs11704
rs11704
CINP ; ZNF839
0.925 0.080 14 102342318 3 prime UTR variant G/C snv 0.26
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1176119168
rs1176119168
HSPA1B
0.925 0.080 6 31828202 missense variant G/A;T snv 1.9E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs118049207
rs118049207
SND1
0.925 0.080 7 127890817 intron variant A/G snv 1.7E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs1194338
rs1194338 		0.925 0.080 11 65493967 upstream gene variant C/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs12037879
rs12037879
LEPR
0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013