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: rs159153
rs159153 		1.000 0.120 3 9748191 upstream gene variant T/C snv 0.32
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2012 2016
dbSNP: rs3219008
rs3219008 		1.000 0.120 3 9753859 intron variant A/G snv 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2012 2016
dbSNP: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
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: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2304277
rs2304277 		0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
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 2010 2010
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: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2072668
rs2072668 		0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
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