MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Malignant neoplasm of colon and/or rectum ×
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: rs1799977
rs1799977 		0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2007 2017
dbSNP: rs35502531
rs35502531 		0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2011 2014
dbSNP: rs56250509
rs56250509 		0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2006 2008
dbSNP: rs876658657
rs876658657 		0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2007 2014
dbSNP: rs1418586322
rs1418586322 		0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2004 2007
dbSNP: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2017
dbSNP: rs28930073
rs28930073 		0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2004 2005
dbSNP: rs756045117
rs756045117 		0.925 0.080 3 37012090 missense variant C/G;T snv 1.6E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2007 2015
dbSNP: rs1466012753
rs1466012753 		0.925 0.080 3 37014525 synonymous variant C/T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs63750447
rs63750447 		0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 1998 1998
dbSNP: rs63751310
rs63751310 		0.851 0.200 3 37048595 stop gained C/T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010