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: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2010 2010
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: 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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2006 2006
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: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2010 2019
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2010 2019
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: 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: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.070 1.000 7 2005 2018
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.070 1.000 7 2005 2018
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.040 1.000 4 2009 2018
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2009 2013
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2009 2013
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2019
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2019
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2006 2014
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2019
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2006 2014
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2009 2016