rs3751143
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs3751143(G;G) |
| Make rs3751143(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 121184501 |
| Gene | LOC105370032, P2RX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3751143 |
| dbSNP (classic) | rs3751143 |
| ClinGen | rs3751143 |
| ebi | rs3751143 |
| HLI | rs3751143 |
| Exac | rs3751143 |
| Gnomad | rs3751143 |
| Varsome | rs3751143 |
| LitVar | rs3751143 |
| Map | rs3751143 |
| PheGenI | rs3751143 |
| Biobank | rs3751143 |
| 1000 genomes | rs3751143 |
| hgdp | rs3751143 |
| ensembl | rs3751143 |
| geneview | rs3751143 |
| scholar | rs3751143 |
| rs3751143 | |
| pharmgkb | rs3751143 |
| gwascentral | rs3751143 |
| openSNP | rs3751143 |
| 23andMe | rs3751143 |
| SNPshot | rs3751143 |
| SNPdbe | rs3751143 |
| MSV3d | rs3751143 |
| GWAS Ctlg | rs3751143 |
| GMAF | 0.1919 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20488797
] P2X7 Receptor-Mediated Killing of an Intracellular Parasite, Toxoplasma gondii, by Human and Murine Macrophages
[PMID 22662160] A Common Missense Variant in the ATP Receptor P2X7 Is Associated with Reduced Risk of Cardiovascular Events
| ClinVar | |
|---|---|
| Risk | rs3751143(G;G) |
| Alt | rs3751143(G;G) |
| Reference | Rs3751143(T;T) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | P2RX7 |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000012.11:g.121622304A>C |
| CLNSRC | |
| CLNACC | |
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 19319666] Genetics of the P2X7 receptor and human disease.
[PMID 19700502] Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system.
[PMID 19838818] Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
| GWAS snp | |
|---|---|
| PMID | [PMID 23144326]
|
| Trait | Chronic obstructive pulmonary disease-related biomarkers |
| Title | Genome-Wide Association Analysis of Blood Biomarkers in Chronic Obstructive Pulmonary Disease. |
| Risk Allele | C |
| P-val | 4E-6 |
| Odds Ratio | NR NR |
[PMID 22776862] Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
[PMID 23435013] Association of P2X7R gene polymorphisms with systemic lupus erythematosus in a Chinese population.
[PMID 23648388] Association of P2X7 receptor gene polymorphisms with sporadic Parkinson's disease in a Han Chinese population.
[PMID 24934217] Gain and loss of function of P2X7 receptors: mechanisms, pharmacology and relevance to diabetic neuropathic pain
[PMID 28243797] Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.
[PMID 30616015] Genetic variations in innate immunity genes affect response to Coxiella burnetii and are associated with susceptibility to chronic Q fever.
[PMID 30664971] Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms.
[PMID 33554789] [A Case-Control Study on Receptor Gene Polymorphism and Risk Suffering from Adult Acute Leukemia in Fujian Area].
