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: 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: 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: rs20426
rs20426
PTGS2 ; PACERR
1.000 0.080 1 186680288 start lost C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
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
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: 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: rs373745396
rs373745396
PTGS2 ; PACERR
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 		0.010 1.000 1 2013 2013
dbSNP: rs373745396
rs373745396
PTGS2 ; PACERR
0.925 0.080 1 186679322 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
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: 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: 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: rs5276
rs5276
PTGS2
1.000 0.080 1 186673855 3 prime UTR variant C/T snv 4.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs5278
rs5278
PTGS2
0.925 0.080 1 186676537 synonymous variant A/G snv 4.8E-03 1.8E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2009 2009
dbSNP: rs5278
rs5278
PTGS2
0.925 0.080 1 186676537 synonymous variant A/G snv 4.8E-03 1.8E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2009 2009