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: rs3218625
rs3218625
PTGS2
0.925 0.240 1 186674409 missense variant C/T snv 1.6E-03 5.0E-04
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2009 2009
dbSNP: rs3218625
rs3218625
PTGS2
0.925 0.240 1 186674409 missense variant C/T snv 1.6E-03 5.0E-04
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2011 2011
dbSNP: rs367650109
rs367650109
PTGS2
1.000 0.080 1 186675959 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		0.010 < 0.001 1 2005 2005
dbSNP: rs377655174
rs377655174
PTGS2
1.000 0.080 1 186678374 missense variant G/A snv 8.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
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: rs4648306
rs4648306
PTGS2
1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12
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: 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: rs4648310
rs4648310
PTGS2
1 186671393 downstream gene variant T/C;G snv
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2009 2009
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2006 2006
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2010 2010
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 1.000 1 2009 2009