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: 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2005 2005
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: rs775439790
rs775439790 		0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2002 2002
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: rs756363791
rs756363791 		0.882 0.080 3 9756823 missense variant G/A snv 2.0E-05
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
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: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs771306418
rs771306418 		0.851 0.120 3 9765885 splice acceptor variant -/C delins
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2012 2012
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: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.020 1.000 2 2017 2018
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2018 2018
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: 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: 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: rs3219012
rs3219012 		1.000 0.080 3 9756586 missense variant C/G;T snv 4.0E-06; 1.7E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs764643047
rs764643047 		0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010