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: rs267607780
rs267607780
MLH1
1.000 0.160 3 37012102 splice region variant A/C;G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 2003 2016
dbSNP: rs267607845
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 2003 2014
dbSNP: rs267607898
rs267607898
MLH1
1.000 0.160 3 37050559 frameshift variant CACA/-;CA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 1994 2006
dbSNP: rs267607903
rs267607903
MLH1
1.000 0.160 3 37050575 frameshift variant -/AACA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 1996 2016
dbSNP: rs587778998
rs587778998
MLH1
0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 1999 2015
dbSNP: rs63750948
rs63750948
MLH1
0.925 0.160 3 37014493 missense variant T/C;G snv 3.6E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 2002 2016
dbSNP: rs1553665683
rs1553665683
MLH1
3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs267607717
rs267607717
MLH1
1.000 0.160 3 37000954 splice acceptor variant G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2005 2016
dbSNP: rs267607790
rs267607790
MLH1
1.000 0.160 3 37014546 splice donor variant T/A;C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2003 2014
dbSNP: rs267607825
rs267607825
MLH1
1.000 0.160 3 37026008 splice donor variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1997 2007
dbSNP: rs267607837
rs267607837
MLH1
1.000 0.160 3 37040185 splice acceptor variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1996 2014
dbSNP: rs267607853
rs267607853
MLH1
0.925 0.160 3 37042332 splice donor variant G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2001 2014
dbSNP: rs267607894
rs267607894
MLH1
0.925 0.160 3 37050628 missense variant T/A;C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2003 2013
dbSNP: rs281864938
rs281864938
MLH1
1.000 0.160 3 37048562 frameshift variant C/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2010
dbSNP: rs63750211
rs63750211
MLH1
0.882 0.160 3 37008904 missense variant A/G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs63750540
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1997 2009
dbSNP: rs63750978
rs63750978
MLH1
1.000 0.160 3 37050524 stop gained G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs876659681
rs876659681
MLH1
1.000 0.080 3 37048984 frameshift variant -/TT ins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs267607723
rs267607723
MLH1
1.000 0.160 3 37000953 splice region variant AGAA/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2001 2016
dbSNP: rs267607767
rs267607767
MLH1
0.925 0.160 3 37012009 splice acceptor variant A/C;G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 1995 2013
dbSNP: rs267607794
rs267607794
MLH1
1.000 0.160 3 37017504 splice acceptor variant A/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2001 2014
dbSNP: rs267607867
rs267607867
MLH1
1.000 0.160 3 37047684 splice donor variant G/A;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 1999 2016
dbSNP: rs267607871
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2004 2017
dbSNP: rs63749923
rs63749923
MLH1
1.000 0.160 3 37028902 stop gained C/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 1998 2014
dbSNP: rs63749939
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2004 2014