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: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2011 2015
dbSNP: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2011 2015
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: 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: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs125701
rs125701 		0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1276300653
rs1276300653 		0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1276300653
rs1276300653 		0.925 0.120 3 9757072 missense variant T/C snv 7.0E-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: 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: 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: 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: 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