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: rs13306035
rs13306035 		1.000 0.080 1 186672715 3 prime UTR variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs13306038
rs13306038 		1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200479241
rs200479241 		0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs200479241
rs200479241 		0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs200479241
rs200479241 		0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201931599
rs201931599 		1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0014868
Disease: Esophagitis
Esophagitis 		Digestive System Diseases 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: 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 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: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 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: 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 2013 2013
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 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: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2010 2010