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: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.050 1.000 5 2002 2008
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 0.667 3 2007 2013
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 1.000 3 2008 2012
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2007 2013
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2007 2013
dbSNP: rs56250509
rs56250509
MLH1
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: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C2721734
Disease: Methylenetetrahydrofolate reductase polymorphism
Methylenetetrahydrofolate reductase polymorphism 		0.010 1.000 1 2013 2013
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2014 2014
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 < 0.001 1 2005 2005