PTGS1, prostaglandin-endoperoxide synthase 1, 5742

N. diseases: 318; N. variants: 36
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: rs5788
rs5788 		1.000 0.080 9 122381513 synonymous variant C/A snv 0.16 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		Digestive System Diseases 0.030 0.667 3 2006 2015
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0333291
Disease: Bleeding ulcer
Bleeding ulcer 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 < 0.001 1 2004 2004
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3842787
rs3842787 		0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3842788
rs3842788 		1.000 0.080 9 122377927 splice acceptor variant G/A snv 4.6E-02 9.5E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2011 2019
dbSNP: rs3842803
rs3842803 		0.925 0.040 9 122392256 synonymous variant T/C snv 2.4E-02 8.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3842803
rs3842803 		0.925 0.040 9 122392256 synonymous variant T/C snv 2.4E-02 8.2E-02
CUI: C0749263
Disease: temporal pain
temporal pain 		0.010 1.000 1 2013 2013
dbSNP: rs3842803
rs3842803 		0.925 0.040 9 122392256 synonymous variant T/C snv 2.4E-02 8.2E-02
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		0.010 1.000 1 2013 2013
dbSNP: rs3842803
rs3842803 		0.925 0.040 9 122392256 synonymous variant T/C snv 2.4E-02 8.2E-02
CUI: C4531100
Disease: Negative affectivity
Negative affectivity 		0.010 1.000 1 2013 2013
dbSNP: rs5789
rs5789 		1.000 0.080 9 122381694 missense variant C/A snv 1.8E-02 1.8E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 < 0.001 1 2004 2004
dbSNP: rs5789
rs5789 		1.000 0.080 9 122381694 missense variant C/A snv 1.8E-02 1.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3842802
rs3842802 		1.000 0.040 9 122392241 synonymous variant G/A snv 5.4E-03 1.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4836884
rs4836884 		9 122383715 synonymous variant C/G;T snv 4.0E-06; 2.8E-03
CUI: C0013395
Disease: Dyspepsia
Dyspepsia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs200550102
rs200550102 		1.000 0.120 9 122392240 missense variant C/T snv 1.9E-04 2.1E-05
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs200028534
rs200028534 		1.000 0.080 9 122378558 missense variant C/A;T snv 4.0E-06; 6.0E-05
CUI: C0578870
Disease: Chronic idiopathic urticaria
Chronic idiopathic urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1160235906
rs1160235906 		1.000 0.080 9 122371825 missense variant C/T snv 7.8E-06
CUI: C0578870
Disease: Chronic idiopathic urticaria
Chronic idiopathic urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs771287763
rs771287763 		1.000 0.080 9 122383529 stop gained C/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008