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: rs63750710
rs63750710
MLH1
0.925 0.160 3 37020411 missense variant 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: 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: 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: 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: rs63750240
rs63750240
MLH1
1.000 0.080 3 37047679 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: rs63750271
rs63750271
MLH1
1.000 0.080 3 37040279 missense variant A/C;G snv 8.0E-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: rs63750580
rs63750580
MLH1 ; EPM2AIP1
0.925 0.160 3 36993659 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: 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: rs63750449
rs63750449
MLH1
0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-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: rs63750449
rs63750449
MLH1
0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750993
rs63750993
MLH1
0.925 0.160 3 37020336 missense variant A/C;G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
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: rs63750511
rs63750511
MLH1
0.925 0.160 3 37040252 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: 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: 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: rs63750641
rs63750641
MLH1
0.925 0.160 3 37000997 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: rs63750696
rs63750696
MLH1
1.000 0.080 3 37014455 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: rs63750650
rs63750650
MLH1
1.000 0.080 3 37017518 missense variant A/G snv 2.5E-04 1.3E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718
MLH1
1.000 0.080 3 37047589 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 11 1996 2008
dbSNP: rs63750952
rs63750952
MLH1
1.000 0.080 3 36996693 missense variant A/G snv 3.6E-05 2.8E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751467
rs63751467
MLH1
0.925 0.120 3 37020438 missense variant A/G snv 9.2E-05 5.6E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751612
rs63751612
MLH1
0.925 0.120 3 37047520 missense variant A/G snv 1.2E-04 6.3E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs63751612
rs63751612
MLH1
0.925 0.120 3 37047520 missense variant A/G snv 1.2E-04 6.3E-05
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