Source: ALL

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: rs3804099
rs3804099
TLR2
0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 1.000 2 2012 2018
dbSNP: rs2854746
rs2854746
IGFBP3
0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 1998 1998
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2014 2014
dbSNP: rs174533
rs174533
MYRF ; TMEM258
0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2019 2019
dbSNP: rs1799929
rs1799929
NAT2
0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2017 2017
dbSNP: rs1805097
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2006 2006
dbSNP: rs975263
rs975263
MACC1
0.827 0.120 7 20158817 stop gained G/A;T snv 0.34
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2012 2012
dbSNP: rs7911488
rs7911488
ATP5MD ; MIR1307
0.882 0.080 10 103394332 5 prime UTR variant A/G snv 0.34 0.26
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2017 2017
dbSNP: rs8176318
rs8176318
BRCA1
0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2017 2017
dbSNP: rs10936599
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2010 2010
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2008 2008
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.030 0.333 3 2003 2012
dbSNP: rs1979277
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2010 2010
dbSNP: rs2293581
rs2293581
GREM1 ; LOC100131315
0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2019 2019
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2014 2014
dbSNP: rs2737
rs2737
CDK5RAP3
0.851 0.080 17 47981705 missense variant T/C snv 0.25 0.19
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2011 2011
dbSNP: rs2236338
rs2236338
GZMB
0.851 0.120 14 24631076 missense variant A/G snv 0.24 0.25
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2015 2015
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2009 2009
dbSNP: rs2293582
rs2293582
GREM1 ; LOC100131315
0.790 0.080 15 32718211 non coding transcript exon variant G/A snv 0.23 0.20
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2009 2009
dbSNP: rs11539752
rs11539752
GZMB ; LOC107984667
0.882 0.120 14 24632383 missense variant G/C snv 0.21 0.26
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2005 2005
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2010 2010