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: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.500 4 2003 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.040 1.000 4 2006 2018
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2001 2019
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.030 0.333 3 2003 2012
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 0.667 3 2011 2019
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 0.667 3 2010 2017
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2001 2019
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2001 2019
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2013 2018
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2013 2018
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2002 2010
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2002 2010
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.020 1.000 2 2011 2017
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2011 2012
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0085437
Disease: Meningitis, Bacterial
Meningitis, Bacterial 		Infections; Nervous System Diseases 0.020 1.000 2 2011 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.020 1.000 2 2012 2018
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.020 1.000 2 2011 2011
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 0.500 2 2007 2017
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2001 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.020 1.000 2 2013 2018
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.020 1.000 2 2011 2011