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: rs587782326
rs587782326
MSH6 ; FBXO11
2 47806628 frameshift variant -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2003 2015
dbSNP: rs1553333497
rs1553333497
MSH6 ; FBXO11
2 47806526 frameshift variant TGTCCTAAAAGCT/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2005 2013
dbSNP: rs1553333605
rs1553333605
MSH6 ; FBXO11
2 47806576 frameshift variant -/GAGA ins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2005 2013
dbSNP: rs1558394336
rs1558394336
MSH6 ; FBXO11
2 47806602 frameshift variant AAGCAAGAGAATTTGAGAA/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2003 2011
dbSNP: rs587779285
rs587779285
MSH6 ; FBXO11
2 47806281 missense variant C/A;G;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2007 2014
dbSNP: rs587782386
rs587782386
MSH6 ; FBXO11
2 47800909 missense variant C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2002 2015
dbSNP: rs63750647
rs63750647
MSH6 ; FBXO11
2 47800283 inframe deletion CCT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2014
dbSNP: rs878853742
rs878853742
MSH6 ; FBXO11
2 47806579 frameshift variant -/GGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2003 2011
dbSNP: rs1558394093
rs1558394093
MSH6 ; FBXO11
2 47806580 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 1998 2011
dbSNP: rs587779220
rs587779220
MSH6 ; FBXO11
2 47799737 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2015
dbSNP: rs63751427
rs63751427
MSH6 ; FBXO11
2 47804953 inframe deletion CTG/-;CTGCTG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2012
dbSNP: rs863225412
rs863225412
MSH6 ; FBXO11
2 47806297 frameshift variant CTACCATTCATTAGTAGAAGATTATTCTCA/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2012
dbSNP: rs1060502926
rs1060502926
MSH6 ; FBXO11
2 47805028 splice donor variant G/A;C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2008 2015
dbSNP: rs1114167767
rs1114167767
MSH6 ; FBXO11
2 47804948 frameshift variant C/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2011 2016
dbSNP: rs1553331242
rs1553331242
MSH6 ; FBXO11
2 47803418 splice acceptor variant A/C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2008 2014
dbSNP: rs1553333175
rs1553333175
MSH6 ; FBXO11
2 47806355 splice donor variant GTATG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2008 2015
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: rs1114167723
rs1114167723
MSH6 ; FBXO11
2 47805617 splice acceptor variant G/C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014
dbSNP: rs1114167725
rs1114167725
MSH6 ; FBXO11
2 47798609 splice acceptor variant A/G snv 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014
dbSNP: rs1114167767
rs1114167767
MSH6 ; FBXO11
2 47804948 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2016
dbSNP: rs1553332768
rs1553332768
MSH6 ; FBXO11
2 47805706 splice donor variant -/G delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014
dbSNP: rs1553333674
rs1553333674
MSH6 ; FBXO11
2 47806591 frameshift variant GGACATAGAAAAG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2010 2011
dbSNP: rs1553412755
rs1553412755
MSH6 ; FBXO11
2 47799309 frameshift variant -/G delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014
dbSNP: rs1553413116
rs1553413116
MSH6 ; FBXO11
2 47799720 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2011 2013
dbSNP: rs1553413424
rs1553413424
MSH6 ; FBXO11
2 47800033 frameshift variant C/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014