Source: CLINVAR

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: rs398123231
rs398123231
MSH6 ; FBXO11
1.000 0.160 2 47804948 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2011 2018
dbSNP: rs587779212
rs587779212
MSH6 ; FBXO11
1.000 0.160 2 47799466 stop gained C/A;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 2010 2016
dbSNP: rs587782562
rs587782562
MSH6 ; FBXO11
1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2009 2015
dbSNP: rs587782562
rs587782562
MSH6 ; FBXO11
1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 2009 2015
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2014
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 4 2004 2010
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 4 1992 2014
dbSNP: rs63749999
rs63749999
MSH6 ; FBXO11
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 2004 2012
dbSNP: rs63750563
rs63750563
MSH6 ; FBXO11
0.925 0.160 2 47800996 stop gained C/A;T snv 4.8E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2004 2013
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2016
dbSNP: rs63751058
rs63751058
MSH6 ; FBXO11
1.000 0.160 2 47806325 stop gained T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2006 2015
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 2004 2014
dbSNP: rs63751442
rs63751442
MSH6 ; FBXO11
1.000 0.160 2 47800174 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1999 2015
dbSNP: rs146816935
rs146816935
MSH6 ; FBXO11
1.000 0.160 2 47798875 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2015 2017
dbSNP: rs200492211
rs200492211
MSH6 ; FBXO11
1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2010 2016
dbSNP: rs267608059
rs267608059
MSH6 ; FBXO11
0.882 0.240 2 47801050 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2009 2012
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2006 2011
dbSNP: rs587779212
rs587779212
MSH6 ; FBXO11
1.000 0.160 2 47799466 stop gained C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2010 2016
dbSNP: rs587779267
rs587779267
MSH6 ; FBXO11
1.000 0.160 2 47804958 stop gained G/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2014 2016
dbSNP: rs587779267
rs587779267
MSH6 ; FBXO11
1.000 0.160 2 47804958 stop gained G/T snv 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2014 2016
dbSNP: rs587781372
rs587781372
MSH6 ; FBXO11
2 47800915 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2013 2014
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
1.000 0.160 2 47804946 stop gained -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2011 2017
dbSNP: rs587782562
rs587782562
MSH6 ; FBXO11
1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2009 2014
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2004 2013
dbSNP: rs63749980
rs63749980
MSH6 ; FBXO11
1.000 0.160 2 47798725 stop gained C/A;G;T snv 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2008