MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
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: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2008 2012
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2007 2013
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2007 2013
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 0.500 2 2007 2013
dbSNP: rs141095230
rs141095230 		0.925 0.120 10 129536277 missense variant C/A;T snv 8.0E-06; 5.2E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs141095230
rs141095230 		0.925 0.120 10 129536277 missense variant C/A;T snv 8.0E-06; 5.2E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4751108
rs4751108 		10 129642165 intron variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2005 2005
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2006 2006
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C2721734
Disease: Methylenetetrahydrofolate reductase polymorphism
Methylenetetrahydrofolate reductase polymorphism 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80312298
rs80312298 		0.925 0.120 10 129683009 intron variant C/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80312298
rs80312298 		0.925 0.120 10 129683009 intron variant C/A;T snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9299870
rs9299870 		1.000 0.040 10 129471045 intron variant C/A;G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9299870
rs9299870 		1.000 0.040 10 129471045 intron variant C/A;G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3750824
rs3750824 		10 129759310 missense variant G/A snv 8.5E-04 2.9E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3750824
rs3750824 		10 129759310 missense variant G/A snv 8.5E-04 2.9E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019