MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: rs876658657
rs876658657 		0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 0.500 2 2013 2013
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: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		0.010 1.000 1 2018 2018
dbSNP: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 1.000 1 2014 2014
dbSNP: rs4986984
rs4986984 		0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		0.010 1.000 1 2016 2016
dbSNP: rs587778937
rs587778937 		0.882 0.160 3 37040291 missense variant T/C;G snv
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2013 2013
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: rs63750447
rs63750447 		0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs63750575
rs63750575 		0.851 0.160 3 37047550 missense variant T/C snv
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2013 2013
dbSNP: rs63751202
rs63751202 		0.851 0.160 3 37048578 missense variant T/C;G snv
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2013 2013
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
dbSNP: rs9852810
rs9852810 		0.882 0.080 3 37027478 intron variant G/A snv 0.35
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		0.010 1.000 1 2018 2018
dbSNP: rs143009528
rs143009528 		0.925 0.120 3 37025734 missense variant A/C;G;T snv 3.2E-05; 4.8E-05; 8.0E-06
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs63750610
rs63750610 		0.851 0.240 3 37048563 missense variant C/G;T snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 11 2001 2014
dbSNP: rs121912965
rs121912965 		0.882 0.200 3 36993651 missense variant TG/AC mnv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.800 1.000 7 1995 2015
dbSNP: rs1553647894
rs1553647894 		0.882 0.200 3 37020309 splice acceptor variant G/A;C snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs267607720
rs267607720 		0.851 0.240 3 37000952 splice region variant C/G;T snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0