Source: ALL

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: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.080 1.000 8 2007 2014
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 0.750 4 2011 2013
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.040 0.750 4 2008 2017
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.040 0.750 4 2008 2017
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 1.000 4 2008 2015
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2011 2013
dbSNP: rs876658657
rs876658657
MLH1
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: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2004 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2004 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2004 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2015 2019
dbSNP: rs876658657
rs876658657
MLH1
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: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2008 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2015 2019
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2015 2019
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C4544822
Disease: Microsatellite instability-high colorectal cancer
Microsatellite instability-high colorectal cancer 		0.020 1.000 2 2007 2008
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2004 2004
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 < 0.001 1 2004 2004
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2011 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.010 < 0.001 1 2004 2004
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010