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: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.882 0.200 3 36993651 missense variant TG/AC mnv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 1.000 7 1995 2015
dbSNP: rs140195825
rs140195825
MLH1
1.000 0.080 3 37050634 missense variant A/G snv 7.6E-05 3.5E-05
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: rs143009528
rs143009528
MLH1
0.925 0.120 3 37025734 missense variant A/C;G;T snv 3.2E-05; 4.8E-05; 8.0E-06
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: rs202038499
rs202038499
MLH1
1.000 0.080 3 37025977 missense variant A/C snv 1.6E-04 7.0E-05
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: rs2020873
rs2020873
MLH1
1.000 0.080 3 37050534 missense variant C/T snv 5.6E-03 2.3E-02
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: 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: rs267607727
rs267607727
MLH1
0.925 0.160 3 37001049 splice donor 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: rs267607876
rs267607876
MLH1
1.000 0.080 3 37048587 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: rs267607887
rs267607887
MLH1
1.000 0.080 3 37048910 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: rs267607894
rs267607894
MLH1
0.925 0.160 3 37050628 missense variant T/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: rs34213726
rs34213726
MLH1
1.000 0.080 3 37025925 missense variant A/C snv 7.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs35045067
rs35045067
MLH1
0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05
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: 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: rs367654552
rs367654552
MLH1 ; EPM2AIP1
1.000 0.080 3 36993599 missense variant C/G;T snv 4.0E-06; 3.2E-05
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: rs41295284
rs41295284
MLH1
0.925 0.160 3 37047607 missense variant T/A snv 1.9E-04 1.5E-04
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: rs4986984
rs4986984
MLH1
0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs55907433
rs55907433
MLH1
0.925 0.120 3 37048583 missense variant A/G;T snv 1.1E-03; 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs587778955
rs587778955
MLH1
0.925 0.160 3 36996691 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 		0.700 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: rs587779004
rs587779004
MLH1
1.000 0.080 3 37004420 missense variant A/C;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: rs587779005
rs587779005
MLH1
1.000 0.080 3 37004425 missense variant G/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: 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: rs61751644
rs61751644
MLH1
1.000 0.080 3 37025763 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: rs63749792
rs63749792
MLH1
0.925 0.160 3 37048538 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 0