Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5275
rs5275
PTGS2
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 		0.040 0.750 4 2007 2014
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2007 2014
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 0.667 3 2011 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0030193
Disease: Pain
Pain 		0.030 1.000 3 2009 2015
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2011 2013
dbSNP: rs2066826
rs2066826
PTGS2
0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2010 2015
dbSNP: rs2066826
rs2066826
PTGS2
0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2010 2015
dbSNP: rs2066826
rs2066826
PTGS2
0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2010 2015
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2012 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 0.500 2 2008 2011
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 0.500 2 2008 2011
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2012 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2013 2013
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2012 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2011 2013
dbSNP: rs13306035
rs13306035
PTGS2
1.000 0.080 1 186672715 3 prime UTR variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs13306038
rs13306038
PTGS2
1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
dbSNP: rs200479241
rs200479241
PTGS2
0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs200479241
rs200479241
PTGS2
0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs200479241
rs200479241
PTGS2
0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs201931599
rs201931599
PTGS2
1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
dbSNP: rs2066826
rs2066826
PTGS2
0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2003 2003
dbSNP: rs2206593
rs2206593
PTGS2
0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs2206593
rs2206593
PTGS2
0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2015 2015
dbSNP: rs2206593
rs2206593
PTGS2
0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2015 2015