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: rs1625649
rs1625649
0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61
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: 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
Squamous cell carcinoma of the head and neck
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 1.000 4 2009 2013
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.040 1.000 4 2009 2013
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: 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: 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
dbSNP: rs2296675
rs2296675
1.000 0.080 10 129766734 intron variant A/G snv 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2296675
rs2296675
1.000 0.080 10 129766734 intron variant A/G snv 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2006 2006
dbSNP: rs2308321
rs2308321
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006