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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 2006 2019
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2019 2019
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: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2010 2018
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2010 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2014 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2014 2018
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2011 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2011 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2018
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4648308
rs4648308 		0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2018 2018