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: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		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: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB 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: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA 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: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
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: 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: 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: C0699791
Disease: Stomach Carcinoma
Stomach 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
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: rs689470
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2009 2009
dbSNP: rs689470
rs689470
PTGS2
0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach 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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0014868
Disease: Esophagitis
Esophagitis 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0017638
Disease: Glioma
Glioma 		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: 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: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2010 2010