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: rs267608078
rs267608078
MSH6 ; FBXO11
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 33 1997 2017
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 19 1997 2015
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 2004 2017
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1997 2017
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 1.000 13 2001 2019
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 12 2002 2018
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 12 2006 2017
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
0.925 0.160 2 47804984 frameshift variant -/A;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1999 2017
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 11 2005 2016
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 10 2005 2016
dbSNP: rs267608122
rs267608122
MSH6 ; FBXO11
0.925 0.160 2 47806651 missense variant G/A;C snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 10 1994 2016
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2006 2016
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
0.925 0.160 2 47806606 frameshift variant CAAG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2003 2014
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 2004 2017
dbSNP: rs63750909
rs63750909
MSH6 ; FBXO11
0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2004 2017
dbSNP: rs63751319
rs63751319
MSH6 ; FBXO11
0.925 0.160 2 47806490 frameshift variant GGAGACT/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 2005 2014
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2002 2016
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
0.925 0.160 2 47806606 frameshift variant CAAG/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 2003 2015
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
0.925 0.160 2 47806606 frameshift variant CAAG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 2003 2016
dbSNP: rs267608121
rs267608121
MSH6 ; FBXO11
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2003 2016
dbSNP: rs63749942
rs63749942
MSH6 ; FBXO11
1.000 0.160 2 47806279 inframe deletion CGT/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 2007 2016
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
0.851 0.200 2 47800966 stop gained G/A;C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 2001 2015
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
0.925 0.160 2 47804984 frameshift variant -/A;AA delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 1999 2010
dbSNP: rs760190301
rs760190301
MSH6 ; FBXO11
1.000 0.160 2 47806582 frameshift variant -/GTTA delins 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 1998 2017
dbSNP: rs267608121
rs267608121
MSH6 ; FBXO11
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 2003 2015