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: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2019 2019
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 < 0.001 1 2019 2019
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.010 1.000 1 2018 2018
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2018 2018
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: 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: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
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: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.010 1.000 1 2017 2017
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		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: C1299433
Disease: Left main coronary artery disease
Left main coronary artery disease 		0.010 1.000 1 2017 2017
dbSNP: rs689465
rs689465
PTGS2 ; PACERR
0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 1.000 1 2017 2017