MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 293; N. variants: 14
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: rs11016883
rs11016883
10 129702676 intron variant G/C snp 0.39
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1 2013 2013
dbSNP: rs16906252
rs16906252
0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1 2015 2015
dbSNP: rs477692
rs477692
10 129627758 intron variant T/C snp 0.44
CUI: C3546688
Disease: response to temozolomide
response to temozolomide
0.700 1 2013 2013
dbSNP: rs80312298
rs80312298
0.923 0.107 10 129683009 intron variant C/A,T snp 7.2E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1 2015 2015
dbSNP: rs80312298
rs80312298
0.923 0.107 10 129683009 intron variant C/A,T snp 7.2E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Skin and Connective Tissue Diseases 0.700 1 2015 2015
dbSNP: rs16906252
rs16906252
0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2010
dbSNP: rs16906252
rs16906252
0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.020 1.000 2 2013 2016
dbSNP: rs773919809
rs773919809
0.846 0.179 10 129766957 missense variant C/T snp 2.0E-05
Squamous cell carcinoma of esophagus
Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2011
dbSNP: rs12268840
rs12268840
0.923 0.143 10 129527035 intron variant C/T snp 0.23
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12268840
rs12268840
0.923 0.143 10 129527035 intron variant C/T snp 0.23
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 0.107 10 129468206 intron variant T/A snp 0.22
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
0.801 0.143 10 129708019 missense variant C/T snp 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
0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12917
rs12917
0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12917
rs12917
0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12917
rs12917
0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs12917
rs12917
0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs141095230
rs141095230
0.923 0.107 10 129536277 missense variant C/A,T snp 8.0E-06; 5.2E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
Digestive System Diseases; Endocrine System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs141095230
rs141095230
0.923 0.107 10 129536277 missense variant C/A,T snp 8.0E-06; 5.2E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Endocrine System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1625649
rs1625649
0.821 0.071 10 129466667 intergenic variant A/C snp 0.60
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1625649
rs1625649
0.821 0.071 10 129466667 intergenic variant A/C snp 0.60
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1625649
rs1625649
0.821 0.071 10 129466667 intergenic variant A/C snp 0.60
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 1.000 1 2017 2017
dbSNP: rs1625649
rs1625649
0.821 0.071 10 129466667 intergenic variant A/C snp 0.60
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1625649
rs1625649
0.821 0.071 10 129466667 intergenic variant A/C snp 0.60
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 1.000 1 2017 2017
dbSNP: rs16906252
rs16906252
0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2011 2011