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: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		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: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2010 2010
dbSNP: rs689465
rs689465
PTGS2 ; PACERR
0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2016 2016
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: 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: 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: 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: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 1.000 1 2013 2013
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2015 2016
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0003165
Disease: Anthracosis
Anthracosis 		0.010 1.000 1 2014 2014
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0003165
Disease: Anthracosis
Anthracosis 		0.010 1.000 1 2014 2014
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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2008 2008
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
0.807 0.200 1 186680089 intron variant A/G snv 0.83
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2016 2016
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 0.800 5 2010 2018
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2007 2014
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2014 2018
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2010 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: 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: 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