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: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.020 1.000 2 2013 2015
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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2006 2012
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: 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: 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: 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: 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