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: rs10306194
rs10306194 		1.000 0.040 9 122394919 3 prime UTR variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: 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: rs1256318228
rs1256318228 		9 122386588 synonymous variant C/T snv 7.0E-06
CUI: C0013395
Disease: Dyspepsia
Dyspepsia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1378013115
rs1378013115 		1.000 0.080 9 122390289 missense variant A/G snv 7.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 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: 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: 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: 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: rs10306166
rs10306166 		1.000 0.040 9 122388148 intron variant G/A snv 2.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10306184
rs10306184 		1.000 0.040 9 122392908 3 prime UTR variant T/G snv 6.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10306156
rs10306156 		1.000 0.040 9 122384422 intron variant T/C snv 6.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs10306157
rs10306157 		1.000 0.040 9 122384826 intron variant G/A snv 6.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10306183
rs10306183 		1.000 0.040 9 122392631 3 prime UTR variant C/A snv 8.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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