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: rs5275
rs5275 		0.583 0.560 1 186673926 3 prime UTR variant A/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 2018 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
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: 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: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4648306
rs4648306 		1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4648308
rs4648308 		0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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: 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: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5277
rs5277 		0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C1299433
Disease: Left main coronary artery disease
Left main coronary artery disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs689465
rs689465 		0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C1299433
Disease: Left main coronary artery disease
Left main coronary artery disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs689470
rs689470 		0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2745557
rs2745557 		0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2007 2016
dbSNP: rs2745557
rs2745557 		0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2007 2016
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2016
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.020 0.500 2 2015 2016
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2016
dbSNP: rs689466
rs689466 		0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2016
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs20417
rs20417 		0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs2745557
rs2745557 		0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016