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: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2005 2009
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2005 2009
dbSNP: rs56053615
rs56053615 		0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2004 2016
dbSNP: rs771306418
rs771306418 		0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2005 2009
dbSNP: rs771306418
rs771306418 		0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2005 2009
dbSNP: rs104893751
rs104893751 		0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
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: rs104893751
rs104893751 		0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs104893751
rs104893751 		0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs113561019
rs113561019 		1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs113561019
rs113561019 		1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1180868926
rs1180868926 		0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1180868926
rs1180868926 		0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 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: rs1400826115
rs1400826115 		1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1400826115
rs1400826115 		1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1408585874
rs1408585874 		1.000 0.080 3 9757233 missense variant A/C snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1419684880
rs1419684880 		1.000 0.080 3 9754859 missense variant T/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1424375643
rs1424375643 		0.925 0.080 3 9751856 missense variant A/G snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1424375643
rs1424375643 		0.925 0.080 3 9751856 missense variant A/G snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs145574072
rs145574072 		0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs145574072
rs145574072 		0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs149243735
rs149243735 		0.925 0.120 3 9751076 missense variant C/A snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014