Source: BEFREE

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: rs5279
rs5279
PTGS2
0.925 0.080 1 186675946 missense variant A/C;G;T snv 4.0E-06; 4.5E-03; 8.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2009 2009
dbSNP: rs5279
rs5279
PTGS2
0.925 0.080 1 186675946 missense variant A/C;G;T snv 4.0E-06; 4.5E-03; 8.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs4648298
rs4648298
PTGS2
0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs4648298
rs4648298
PTGS2
0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs4648298
rs4648298
PTGS2
0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2010 2015
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
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 		0.030 0.667 3 2010 2015
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: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0030193
Disease: Pain
Pain 		0.020 1.000 2 2012 2015
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: rs4648308
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2010 2010
dbSNP: rs4648308
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 1.000 1 2018 2018
dbSNP: rs4648308
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 1.000 1 2010 2010
dbSNP: rs4648308
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
dbSNP: rs4648308
rs4648308
PTGS2
0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2010 2010
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C1299433
Disease: Left main coronary artery disease
Left main coronary artery disease 		0.010 1.000 1 2017 2017
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 1.000 3 2007 2016
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 1.000 3 2007 2016