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: 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: 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: 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: 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: 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: 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: rs9299870
rs9299870 		1.000 0.040 10 129471045 intron variant C/A;G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9299870
rs9299870 		1.000 0.040 10 129471045 intron variant C/A;G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; 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: 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: rs1625649
rs1625649 		0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1625649
rs1625649 		0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61
CUI: C4727587
Disease: MGMT-Methylated Glioblastoma
MGMT-Methylated Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1625649
rs1625649 		0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs199734815
rs199734815 		1.000 0.080 10 129708022 missense variant C/T snv 6.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2296675
rs2296675 		1.000 0.080 10 129766734 intron variant A/G snv 0.13
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017