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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.538 13 2005 2015
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 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: 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: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8 		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: C3146264
Disease: Stage IV Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7 		0.010 1.000 1 2015 2015
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: 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: 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: rs56053615
rs56053615 		0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2018 2018