Source: UNIPROT

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: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 35 1996 2017
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 20 1996 2013
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs28930073
rs28930073
MLH1
0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.720 1.000 11 1996 2008
dbSNP: rs35502531
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs587779021
rs587779021
MLH1
0.851 0.200 3 37008905 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750575
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750610
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 20 1996 2014
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 15 2001 2017
dbSNP: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 15 2001 2017
dbSNP: rs63751194
rs63751194
MLH1
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 15 2001 2017
dbSNP: rs63749939
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs63751012
rs63751012
MLH1 ; EPM2AIP1
0.851 0.200 3 36993656 stop gained G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751275
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 0 2001 2015
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
0.882 0.160 3 36993632 missense variant G/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs63750693
rs63750693
MLH1
0.882 0.160 3 37047652 missense variant T/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 35 1996 2017
dbSNP: rs267607706
rs267607706
MLH1 ; EPM2AIP1
0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs587778964
rs587778964
MLH1
0.882 0.160 3 37048604 missense variant A/C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750211
rs63750211
MLH1
0.882 0.160 3 37008904 missense variant A/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750453
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750648
rs63750648
MLH1 ; EPM2AIP1
0.882 0.160 3 36993602 missense variant A/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
0.882 0.160 3 36993609 missense variant C/A;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008