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: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 19 1997 2015
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 15 1996 2015
dbSNP: rs63751711
rs63751711
MLH1
0.925 0.160 3 37012099 missense variant G/A;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 15 1996 2010
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 14 1995 2013
dbSNP: rs28929483
rs28929483
MSH2
0.925 0.160 2 47475130 missense variant C/A;G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 13 1993 2014
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 13 2005 2016
dbSNP: rs63750855
rs63750855
MLH1
0.925 0.160 3 37028858 frameshift variant C/-;CC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 13 1991 2015
dbSNP: rs63750437
rs63750437
MLH1
0.925 0.160 3 37000977 missense variant G/A;C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 12 1997 2014
dbSNP: rs63750828
rs63750828
MSH2
0.925 0.160 2 47416351 missense variant G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 12 2003 2017
dbSNP: rs63751608
rs63751608
MLH1
0.925 0.160 3 37042321 missense variant T/C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 11 1995 2013
dbSNP: rs63751662
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 11 1999 2016
dbSNP: rs267607759
rs267607759
MLH1
1.000 0.160 3 37011818 splice acceptor variant A/C;G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 10 1995 2016
dbSNP: rs267607906
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 10 1996 2016
dbSNP: rs63750393
rs63750393
MSH2
0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 10 2002 2013
dbSNP: rs63751657
rs63751657
MLH1
0.925 0.160 3 37042331 splice region variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 10 2003 2015
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 2008 2017
dbSNP: rs63750610
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 2001 2012
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: rs63751618
rs63751618
MSH2
0.925 0.160 2 47480866 frameshift variant AG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 1995 2016
dbSNP: rs878853787
rs878853787
MLH1
3 37050630 stop gained -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 1996 2016
dbSNP: rs267607789
rs267607789
MLH1
1.000 0.160 3 37014545 splice donor variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 1995 2010
dbSNP: rs267607901
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 1996 2016
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: rs587778888
rs587778888
MLH1 ; EPM2AIP1
1.000 0.160 3 36993660 missense variant A/C;G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 2002 2016
dbSNP: rs587779067
rs587779067
MSH2
0.882 0.200 2 47416399 missense variant C/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 8 2004 2016