Source: ALL

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: rs63751221
rs63751221
MLH1
0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 2000 2009
dbSNP: rs267607845
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 2003 2016
dbSNP: rs63750539
rs63750539
MLH1
0.925 0.160 3 37004426 missense variant C/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 2000 2014
dbSNP: rs63751428
rs63751428
MLH1
0.882 0.160 3 36996686 stop gained C/A;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 1995 2010
dbSNP: rs63751598
rs63751598
MLH1
1.000 0.160 3 37017598 missense variant A/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 1997 2008
dbSNP: rs267607760
rs267607760
MLH1
0.925 0.160 3 37008908 splice region variant A/G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 1997 2011
dbSNP: rs267607767
rs267607767
MLH1
0.925 0.160 3 37012009 splice acceptor variant A/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 1995 2016
dbSNP: rs587778998
rs587778998
MLH1
0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 2004 2015
dbSNP: rs267607768
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 2005 2013
dbSNP: rs63750005
rs63750005
MLH1
0.925 0.160 3 37000992 missense variant C/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 1999 2014
dbSNP: rs63750540
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 1997 2009
dbSNP: rs63750603
rs63750603
MLH1
1.000 0.160 3 37049017 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 2005 2012
dbSNP: rs63750677
rs63750677
MLH1
0.925 0.160 3 37020435 frameshift variant C/-;CC delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 1997 2011
dbSNP: rs63751615
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 5 1996 2017
dbSNP: rs1553642657
rs1553642657
MLH1
1.000 0.160 3 37008811 splice donor variant GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2003 2010
dbSNP: rs267607786
rs267607786
MLH1
1.000 0.160 3 37014548 splice region variant A/C;G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 1997 2011
dbSNP: rs267607837
rs267607837
MLH1
1.000 0.160 3 37040185 splice acceptor variant G/A;C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 1996 2001
dbSNP: rs267607853
rs267607853
MLH1
0.925 0.160 3 37042332 splice donor variant G/A;C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 1996 2006
dbSNP: rs267607875
rs267607875
MLH1
1.000 0.160 3 37048539 missense variant C/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2005 2011
dbSNP: rs63749792
rs63749792
MLH1
0.925 0.160 3 37048538 missense variant C/A;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2004 2011
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2003 2011
dbSNP: rs63750648
rs63750648
MLH1 ; EPM2AIP1
0.882 0.160 3 36993602 missense variant A/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2002 2010
dbSNP: rs63751022
rs63751022
MLH1
0.925 0.160 3 37050523 stop gained G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2000 2013
dbSNP: rs63751153
rs63751153
MLH1
1.000 0.160 3 37025823 stop gained C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2007 2016
dbSNP: rs63751662
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2006 2011