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: rs769541124
rs769541124 		1.000 0.040 3 9751142 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
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: 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: 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: rs1801126
rs1801126 		1.000 0.080 3 9750269 5 prime UTR variant G/T snv 4.4E-03 2.3E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801129
rs1801129 		1.000 0.080 3 9750264 5 prime UTR variant A/G snv 1.2E-03 4.5E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1805373
rs1805373 		0.925 0.080 3 9754824 missense variant G/A;C snv 6.6E-03; 4.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1805373
rs1805373 		0.925 0.080 3 9754824 missense variant G/A;C snv 6.6E-03; 4.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1805373
rs1805373 		0.925 0.080 3 9754824 missense variant G/A;C snv 6.6E-03; 4.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1805373
rs1805373 		0.925 0.080 3 9754824 missense variant G/A;C snv 6.6E-03; 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
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: 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: rs373826669
rs373826669 		0.925 0.080 3 9754799 missense variant G/A;C snv 1.1E-04 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs373826669
rs373826669 		0.925 0.080 3 9754799 missense variant G/A;C snv 1.1E-04 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56387615
rs56387615 		1.000 0.080 3 9750234 5 prime UTR variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs747091571
rs747091571 		0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002