chr1:186681189:C>G Detail (hg38) (PTGS2, PACERR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:186,650,321-186,650,321 View the variant detail on this assembly version. |
| hg38 | chr1:186,681,189-186,681,189 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.027 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
other
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
other
|
2022-12-10 | no assertion criteria provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Drug usage | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... | BeFree | 24194923 | Detail |
| 0.013 | colorectal cancer | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... | BeFree | 24194923 | Detail |
| 0.006 | colorectal carcinoma | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... | BeFree | 24194923 | Detail |
| 0.007 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| 0.134 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| 0.003 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| 0.005 | Coronary Arteriosclerosis | The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence fro... | BeFree | 24513487 | Detail |
| 0.002 | Ischemic stroke | Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day isc... | BeFree | 20472470 | Detail |
| 0.005 | Coronary Arteriosclerosis | A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) w... | BeFree | 19046748 | Detail |
| 0.004 | arteriosclerosis | A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) w... | BeFree | 19046748 | Detail |
| <0.001 | Cardiovascular Diseases | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| 0.001 | esophagitis | For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase i... | BeFree | 20811626 | Detail |
| <0.001 | myocardial infarction | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| 0.010 | Degenerative polyarthritis | The promoter polymorphism rs20417 of the COX-2 gene contributes to the genetic r... | BeFree | 20378913 | Detail |
| 0.228 | liver carcinoma | Associations between Cox-2 rs20417 and rs5275 polymorphisms and the risk of hepa... | BeFree | 25400773 | Detail |
| 0.008 | Coronary heart disease | The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence fro... | BeFree | 24513487 | Detail |
| 0.002 | Malignant neoplasm of liver | Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-re... | BeFree | 22340386 | Detail |
| 0.130 | Cerebrovascular accident | This is the first study to demonstrate associations between stroke functional ou... | BeFree | 20472470 | Detail |
| 0.130 | Cardiovascular Diseases | The allele -765C, of the -765G > C polymorphism (rs20417) in the COX-2 promot... | BeFree | 21114363 | Detail |
| 0.075 | Malignant neoplasm of breast | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... | BeFree | 25214704 | Detail |
| 0.132 | coronary artery disease | The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence fro... | BeFree | 24513487 | Detail |
| 0.007 | hepatitis B | Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-re... | BeFree | 22340386 | Detail |
| 0.130 | Cerebrovascular accident | Therefore, the present study was taken up to investigate the role of -765G/C pol... | BeFree | 22763923 | Detail |
| 0.044 | breast carcinoma | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... | BeFree | 25214704 | Detail |
| 0.008 | Coronary heart disease | A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) w... | BeFree | 19046748 | Detail |
| 0.002 | Ischemic Cerebrovascular Accident | Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day isc... | BeFree | 20472470 | Detail |
| 0.139 | atherosclerosis | A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) w... | BeFree | 19046748 | Detail |
| 0.002 | Liver and Intrahepatic Biliary Tract Carcinoma | Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-re... | BeFree | 22340386 | Detail |
| 0.130 | Cardiovascular Diseases | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| 0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| 0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NR_125801.1(PACERR):n.536C>G AND Cholangiocarcinoma | ClinVar | Detail |
| The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... | DisGeNET | Detail |
| The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... | DisGeNET | Detail |
| The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence from 17,621 subjects. | DisGeNET | Detail |
| Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functio... | DisGeNET | Detail |
| A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on c... | DisGeNET | Detail |
| A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on c... | DisGeNET | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including th... | DisGeNET | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| The promoter polymorphism rs20417 of the COX-2 gene contributes to the genetic risk for end-stage hi... | DisGeNET | Detail |
| Associations between Cox-2 rs20417 and rs5275 polymorphisms and the risk of hepatocellular carcinoma... | DisGeNET | Detail |
| The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence from 17,621 subjects. | DisGeNET | Detail |
| Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-related liver cancer i... | DisGeNET | Detail |
| This is the first study to demonstrate associations between stroke functional outcome and 2 COX-2 va... | DisGeNET | Detail |
| The allele -765C, of the -765G > C polymorphism (rs20417) in the COX-2 promoter has lower promote... | DisGeNET | Detail |
| Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... | DisGeNET | Detail |
| The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence from 17,621 subjects. | DisGeNET | Detail |
| Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-related liver cancer i... | DisGeNET | Detail |
| Therefore, the present study was taken up to investigate the role of -765G/C polymorphism (rs20417) ... | DisGeNET | Detail |
| Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... | DisGeNET | Detail |
| A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on c... | DisGeNET | Detail |
| Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functio... | DisGeNET | Detail |
| A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on c... | DisGeNET | Detail |
| Cyclooxygenase-2 promoter polymorphism -899G/C is associated with hepatitis B-related liver cancer i... | DisGeNET | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
- Gene
- -
- Genome
- hg38
- Position
- chr1:186,681,189-186,681,189
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs20417
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0274
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 460
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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