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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.020 1.000 2 2013 2015
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		Digestive System Diseases; Neoplasms 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
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: 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: 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: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2020 2020
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2019
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: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.020 1.000 2 2013 2015
dbSNP: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2020 2020
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: 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