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: rs10306121
rs10306121 		9 122372369 intron variant A/T snv 6.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10306121
rs10306121 		9 122372369 intron variant A/T snv 6.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10306137
rs10306137 		9 122376185 intron variant C/T snv 1.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10306137
rs10306137 		9 122376185 intron variant C/T snv 1.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10306137
rs10306137 		9 122376185 intron variant C/T snv 1.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs10306135
rs10306135 		9 122375416 5 prime UTR variant A/T snv 0.14
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
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: 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 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: 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: rs1213266
rs1213266 		1.000 0.080 9 122374605 intron variant A/G snv 0.79
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1216603398
rs1216603398 		1.000 0.080 9 122390332 synonymous variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1440603985
rs1440603985 		1.000 0.080 9 122378535 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
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: 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: 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: 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
dbSNP: rs10306114
rs10306114 		1.000 0.040 9 122370243 upstream gene variant A/G snv 8.0E-02
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1300938986
rs1300938986 		9 122392516 missense variant C/T snv 4.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1330344
rs1330344 		0.925 0.120 9 122369409 upstream gene variant C/T snv 0.69
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs10306141
rs10306141 		1.000 0.040 9 122379428 intron variant T/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017