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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2014 2018
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: rs2206593
rs2206593
0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs373745396
rs373745396
0.925 0.080 1 186679322 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4648298
rs4648298
0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007