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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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: rs104893751
rs104893751 		0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2009 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2011 2011
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2013 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs2075747
rs2075747 		0.925 0.080 3 9756039 intron variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2075747
rs2075747 		0.925 0.080 3 9756039 intron variant G/A snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs293795
rs293795 		0.925 0.080 3 9757429 3 prime UTR variant A/G snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs293795
rs293795 		0.925 0.080 3 9757429 3 prime UTR variant A/G snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs771306418
rs771306418 		0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 < 0.001 1 2015 2015
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: 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.500 4 2003 2013