PTGS2, prostaglandin-endoperoxide synthase 2, 5743

N. diseases: 1234; N. variants: 27
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: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2013 2013
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.010 1.000 1 2015 2015
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
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 2019 2019
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.010 1.000 1 2017 2017
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277 		0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2019 2019
dbSNP: rs748500299
rs748500299 		0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 < 0.001 1 2013 2013
dbSNP: rs4648308
rs4648308 		0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs4648308
rs4648308 		0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 0.667 3 2006 2014
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2014
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2014
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2014
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009