Source: BEFREE

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: rs587778966
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 0.500 2 2006 2009
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 0.947 2 1995 2014
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 1.000 2 1975 2017
dbSNP: rs587778914
rs587778914
MLH1
0.925 0.160 3 36996645 missense variant A/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937
MLH1
0.882 0.160 3 37040291 missense variant T/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2013 2013
dbSNP: rs63749818
rs63749818
MLH1
0.925 0.160 3 37007002 stop gained C/A;G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 < 0.001 1 2009 2009
dbSNP: rs63750211
rs63750211
MLH1
0.882 0.160 3 37008904 missense variant A/G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2012 2012
dbSNP: rs63750693
rs63750693
MLH1
0.882 0.160 3 37047652 missense variant T/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2010 2010
dbSNP: rs63750710
rs63750710
MLH1
0.925 0.160 3 37020411 missense variant A/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 1997 1997
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 1996 2013
dbSNP: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2004 2004
dbSNP: rs63751194
rs63751194
MLH1
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 1999 2014
dbSNP: rs63751608
rs63751608
MLH1
0.925 0.160 3 37042321 missense variant T/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2005 2005
dbSNP: rs35502531
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.030 0.667 3 2006 2012
dbSNP: rs1418586322
rs1418586322
MLH1
0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 1.000 2 2004 2007
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 1.000 2 2006 2012
dbSNP: rs63751713
rs63751713
MLH1
0.925 0.160 3 37047531 missense variant C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 0.500 2 1999 2005
dbSNP: rs1060504000
rs1060504000
MLH1
0.925 0.160 3 37025666 missense variant T/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs1260021106
rs1260021106
MLH1
0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs1392665848
rs1392665848
MLH1
0.925 0.160 3 37025865 missense variant A/G snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2012 2012
dbSNP: rs267607713
rs267607713
MLH1
0.882 0.160 3 36996623 splice acceptor variant G/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs28930073
rs28930073
MLH1
0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2006 2006
dbSNP: rs35045067
rs35045067
MLH1
0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2006 2006
dbSNP: rs376642306
rs376642306
MLH1
0.925 0.160 3 37028819 missense variant T/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2005 2005