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: 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: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2003 2003
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: 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: 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: rs689470
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 < 0.001 1 2006 2006
dbSNP: rs689470
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 < 0.001 1 2006 2006
dbSNP: rs689470
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 < 0.001 1 2006 2006
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2008 2008
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2008 2008
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 0.500 2 2006 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: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 1.000 1 2009 2009
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: rs2745557
rs2745557
PTGS2 ; PACERR
0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
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: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV 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: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 1.000 1 2009 2009