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: rs10764901
rs10764901 		1.000 0.040 10 129716598 intron variant A/G snv 0.62
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879 		0.882 0.040 10 129691518 intron variant A/C;G snv 0.66
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879 		0.882 0.040 10 129691518 intron variant A/C;G snv 0.66
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879 		0.882 0.040 10 129691518 intron variant A/C;G snv 0.66
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879 		0.882 0.040 10 129691518 intron variant A/C;G snv 0.66
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2018 2018
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: 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: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C0018834
Disease: Heartburn
Heartburn 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs12268840
rs12268840 		0.827 0.200 10 129527035 intron variant C/T 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: 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: rs12769288
rs12769288 		0.882 0.080 10 129488086 intron variant C/T snv 0.10
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12769288
rs12769288 		0.882 0.080 10 129488086 intron variant C/T snv 0.10
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12769288
rs12769288 		0.882 0.080 10 129488086 intron variant C/T snv 0.10
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
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: 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