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: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
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: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2006 2006
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
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: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2006 2006
dbSNP: rs2308327
rs2308327 		0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007