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: 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: rs1330344
rs1330344 		0.925 0.120 9 122369409 upstream gene variant C/T snv 0.69
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2019
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: rs4273915
rs4273915 		1.000 0.040 9 122383050 intron variant G/C snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4836886
rs4836886 		1.000 0.040 9 122384616 intron variant C/T snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4836888
rs4836888 		1.000 0.040 9 122384701 intron variant T/G snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9299280
rs9299280 		1.000 0.040 9 122385408 intron variant G/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs4240474
rs4240474 		1.000 0.040 9 122383340 intron variant G/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs10306152
rs10306152 		1.000 0.040 9 122382662 intron variant T/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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
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: 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: 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