MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Colorectal Carcinoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28930073
rs28930073 		0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.720 1.000 12 1996 2008
dbSNP: rs267607894
rs267607894 		0.925 0.160 3 37050628 missense variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750217
rs63750217 		0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750268
rs63750268 		1.000 0.080 3 37020399 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750303
rs63750303 		0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750437
rs63750437 		0.925 0.160 3 37000977 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750449
rs63750449 		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 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750498
rs63750498 		1.000 0.080 3 37028789 missense variant G/A;T snv 2.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750650
rs63750650 		1.000 0.080 3 37017518 missense variant A/G snv 2.5E-04 1.3E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718 		1.000 0.080 3 37047589 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 11 1996 2008
dbSNP: rs63751194
rs63751194 		0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2008 2012
dbSNP: rs63749939
rs63749939 		0.851 0.160 3 36996702 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63749959
rs63749959 		0.925 0.160 3 37008858 frameshift variant AA/-;A;AAA delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751267
rs63751267 		1.000 0.080 3 36996663 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751283
rs63751283 		0.925 0.160 3 37014533 missense variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751612
rs63751612 		0.925 0.120 3 37047520 missense variant A/G snv 1.2E-04 6.3E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.090 0.778 9 2010 2019
dbSNP: rs876658657
rs876658657 		0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.080 1.000 8 2007 2014
dbSNP: rs1799977
rs1799977 		0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.050 0.800 5 2007 2017
dbSNP: rs56250509
rs56250509 		0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.050 1.000 5 2002 2008
dbSNP: rs35502531
rs35502531 		0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2014
dbSNP: rs1418586322
rs1418586322 		0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2004 2007
dbSNP: rs63750447
rs63750447 		0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 1998 2015
dbSNP: rs756045117
rs756045117 		0.925 0.080 3 37012090 missense variant C/G;T snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2015
dbSNP: rs1224959447
rs1224959447 		1.000 0.080 3 37050622 missense variant C/G snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018