Source: CURATED

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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.945 15 2007 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: 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 12 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: 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: 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
dbSNP: rs137853148
rs137853148
PDGFRL
1.000 0.080 8 17589479 missense variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 11 1995 2015
dbSNP: rs267607894
rs267607894
MLH1
0.925 0.160 3 37050628 missense variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
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 11 1996 2008
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750268
rs63750268
MLH1
1.000 0.080 3 37020399 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750437
rs63750437
MLH1
0.925 0.160 3 37000977 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008