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: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2010 2018
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2010 2018
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.040 0.500 4 2009 2015
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.040 0.500 4 2009 2015
dbSNP: rs5275
rs5275
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2007 2014
dbSNP: rs5275
rs5275
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2007 2014
dbSNP: rs689466
rs689466
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2014 2018
dbSNP: rs689466
rs689466
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2014 2018
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.030 0.667 3 2006 2014
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2011 2015
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.030 0.667 3 2011 2018
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.030 1.000 3 2009 2014
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 2006 2019
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: rs5275
rs5275
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.030 0.667 3 2011 2018
dbSNP: rs5275
rs5275
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0030193
Disease: Pain
Pain
Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2009 2015
dbSNP: rs5275
rs5275
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.030 1.000 3 2011 2013
dbSNP: rs5277
rs5277
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2010 2015
dbSNP: rs5277
rs5277
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2010 2015
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
Stage IIB Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2011 2013
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs20417
rs20417
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
Stage III Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011