rs1718119
| Orientation | minus |
| Stabilized | minus |
| Make rs1718119(C;C) |
| Make rs1718119(C;T) |
| Make rs1718119(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 121177300 |
| Gene | LOC105370032, P2RX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1718119 |
| dbSNP (classic) | rs1718119 |
| ClinGen | rs1718119 |
| ebi | rs1718119 |
| HLI | rs1718119 |
| Exac | rs1718119 |
| Gnomad | rs1718119 |
| Varsome | rs1718119 |
| LitVar | rs1718119 |
| Map | rs1718119 |
| PheGenI | rs1718119 |
| Biobank | rs1718119 |
| 1000 genomes | rs1718119 |
| hgdp | rs1718119 |
| ensembl | rs1718119 |
| geneview | rs1718119 |
| scholar | rs1718119 |
| rs1718119 | |
| pharmgkb | rs1718119 |
| gwascentral | rs1718119 |
| openSNP | rs1718119 |
| 23andMe | rs1718119 |
| SNPshot | rs1718119 |
| SNPdbe | rs1718119 |
| MSV3d | rs1718119 |
| GWAS Ctlg | rs1718119 |
| GMAF | 0.3081 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
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| ||
[PMID 20535134
] Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis
[PMID 17197037] Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders.
[PMID 19319666] Genetics of the P2X7 receptor and human disease.
[PMID 19838818] Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.
[PMID 20360457] Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.
[PMID 22661222] P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.
[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 24934217] Gain and loss of function of P2X7 receptors: mechanisms, pharmacology and relevance to diabetic neuropathic pain
[PMID 25719930] Variation in Glucose Homeostasis Traits Associated With P2RX7 Polymorphisms in Mice and Humans
[PMID 25865535] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia
[PMID 28243797] Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.
[PMID 28495473] Genetic polymorphisms of the P2X7 gene associated with susceptibility to and prognosis of pulmonary tuberculosis.
[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 33066413] GWAS of Post-Orthodontic Aggressive External Apical Root Resorption Identified Multiple Putative Loci at X-Y Chromosomes.
