OGG1, 8-oxoguanine DNA glycosylase, 4968

N. diseases: 313; N. variants: 38
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: rs104893751
rs104893751
0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
Conventional (Clear Cell) Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs907102077
rs907102077
1.000 0.040 3 9760752 missense variant G/A snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
Neoplasms 0.700 0
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.967 30 1999 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.967 30 1999 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.100 0.967 30 1999 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.100 0.955 22 2002 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.100 0.955 22 2002 2018
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.100 0.500 18 2005 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.944 18 2002 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.944 18 2002 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.100 0.800 15 2001 2017
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.100 0.786 14 2001 2017
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Malignant neoplasm of colon and/or rectum
0.100 0.538 13 2005 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.070 0.857 7 2003 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.070 0.857 7 2003 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.070 1.000 7 2006 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.070 0.857 7 2007 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.060 1.000 6 2007 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.050 1.000 5 2006 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.050 1.000 5 2002 2012
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 1.000 5 2009 2014
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.050 1.000 5 2006 2019
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2005 2019