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: rs398122515
rs398122515
POLE
0.925 12 132643404 splice region variant T/C snv 7.0E-06
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2013 2013
dbSNP: rs1555225958
rs1555225958
POLE
1.000 12 132661097 stop gained C/A snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs761329565
rs761329565
POLE
1.000 12 132681201 frameshift variant C/- delins 4.0E-06
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs704017
rs704017
ZMIZ1-AS1
0.776 0.080 10 79059375 intron variant A/G snv 0.55
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 6 2014 2019
dbSNP: rs11255841
rs11255841 		0.776 0.080 10 8697617 intergenic variant T/A snv 0.25
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639
SMAD7
0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 5 2014 2019
dbSNP: rs10774214
rs10774214
CCND2-AS1
0.790 0.080 12 4259186 intron variant T/C snv 0.54
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2013 2019
dbSNP: rs2423279
rs2423279 		0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810
CCND2
0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2013 2019
dbSNP: rs3824999
rs3824999
POLD3
0.790 0.080 11 74634505 intron variant T/G snv 0.40
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2012 2019
dbSNP: rs6066825
rs6066825
PREX1
0.776 0.080 20 48723580 intron variant A/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2015 2019
dbSNP: rs647161
rs647161
C5orf66
0.776 0.080 5 135163402 intron variant C/A snv 0.63
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2013 2019
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
0.776 0.080 17 10803924 missense variant G/A;C snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs11190164
rs11190164 		0.776 0.080 10 99591947 intergenic variant A/G snv 0.19
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2015 2019
dbSNP: rs16969681
rs16969681 		0.776 0.080 15 32700910 downstream gene variant C/T snv 0.11
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs2427308
rs2427308
CABLES2
0.790 0.080 20 62394395 intron variant C/T snv 0.22
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2014 2019
dbSNP: rs2450115
rs2450115
LOC105375712
0.790 0.080 8 116611854 intergenic variant T/C snv 0.19
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2016 2019
dbSNP: rs4813802
rs4813802 		0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs6469656
rs6469656 		0.790 0.080 8 116635549 regulatory region variant G/A;C snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2014 2019
dbSNP: rs73376930
rs73376930
GREM1 ; LOC100131315
0.790 0.080 15 32720301 intron variant A/G snv 0.25
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2014 2019
dbSNP: rs1035209
rs1035209 		0.790 0.080 10 99585609 intergenic variant C/T snv 0.15
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2014 2019
dbSNP: rs10849432
rs10849432
LOC105369625
0.790 0.080 12 6276561 intergenic variant C/T snv 0.84
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2014 2016
dbSNP: rs10911251
rs10911251
LAMC1
0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2013 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2016 2019
dbSNP: rs12412391
rs12412391
LINC01475
0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2014 2016