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: 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: rs477692
rs477692 		10 129627758 intron variant T/C snv 0.45
CUI: C3546688
Disease: response to temozolomide
response to temozolomide 		0.700 1.000 1 2012 2012
dbSNP: rs12269324
rs12269324 		1.000 0.120 10 129468206 intron variant T/A snv 0.22
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11016883
rs11016883 		10 129702676 intron variant G/C snv 0.38
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2013 2013
dbSNP: rs2008387
rs2008387 		1.000 0.040 10 129650500 intron variant G/A snv 0.36
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2308318
rs2308318 		0.925 0.080 10 129766851 missense variant G/A snv 6.2E-04 1.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2308318
rs2308318 		0.925 0.080 10 129766851 missense variant G/A snv 6.2E-04 1.3E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs34180180
rs34180180 		1.000 0.040 10 129466848 upstream gene variant G/A snv 4.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs34180180
rs34180180 		1.000 0.040 10 129466848 upstream gene variant G/A snv 4.8E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2016 2016
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
dbSNP: rs7087131
rs7087131 		1.000 0.080 10 129676210 intron variant G/A snv 0.15
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
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: 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
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: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2014