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: rs3802842
rs3802842
COLCA2 ; COLCA1
0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 24 2008 2019
dbSNP: rs16892766
rs16892766 		0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 19 2008 2019
dbSNP: rs34612342
rs34612342
MUTYH
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 17 2002 2019
dbSNP: rs10795668
rs10795668
LOC105376400
0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 15 2008 2019
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 14 2002 2015
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 14 2007 2018
dbSNP: rs4444235
rs4444235 		0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 14 2008 2019
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
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 13 1999 2012
dbSNP: rs267608140
rs267608140
MSH6 ; FBXO11
0.925 0.160 2 47806838 missense variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs28930073
rs28930073
MLH1
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 12 1996 2008
dbSNP: rs34374438
rs34374438
MSH6 ; FBXO11
1.000 0.080 2 47800544 missense variant A/T snv 3.9E-04 3.5E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs4779584
rs4779584 		0.732 0.160 15 32702555 intergenic variant T/C snv 0.67
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.870 1.000 12 2008 2016
dbSNP: rs63749973
rs63749973
MSH6 ; FBXO11
0.925 0.160 2 47799679 stop gained G/A;T snv 2.4E-04 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750157
rs63750157
MSH6 ; FBXO11
1.000 0.080 2 47804943 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750253
rs63750253
MSH6 ; FBXO11
0.925 0.160 2 47803531 missense variant G/A snv 4.8E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750287
rs63750287
MSH6 ; FBXO11
1.000 0.080 2 47801045 missense variant C/A;G snv 8.4E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750304
rs63750304
MSH6 ; FBXO11
1.000 0.080 2 47800158 missense variant C/G snv 1.6E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
MSH6 ; FBXO11
1.000 0.080 2 47800037 missense variant G/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750389
rs63750389
MSH6 ; FBXO11
0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750442
rs63750442
MSH6 ; FBXO11
1.000 0.080 2 47803546 missense variant C/G;T snv 7.6E-05; 4.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
MSH6 ; FBXO11
1.000 0.080 2 47800343 missense variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750664
rs63750664
MSH6
0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750725
rs63750725
MSH6 ; FBXO11
1.000 0.080 2 47800298 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 12 1999 2012