rs2230912
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common on affy axiom data |
| Make rs2230912(A;G) |
| Make rs2230912(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 121184393 |
| Gene | LOC105370032, P2RX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230912 |
| dbSNP (classic) | rs2230912 |
| ClinGen | rs2230912 |
| ebi | rs2230912 |
| HLI | rs2230912 |
| Exac | rs2230912 |
| Gnomad | rs2230912 |
| Varsome | rs2230912 |
| LitVar | rs2230912 |
| Map | rs2230912 |
| PheGenI | rs2230912 |
| Biobank | rs2230912 |
| 1000 genomes | rs2230912 |
| hgdp | rs2230912 |
| ensembl | rs2230912 |
| geneview | rs2230912 |
| scholar | rs2230912 |
| rs2230912 | |
| pharmgkb | rs2230912 |
| gwascentral | rs2230912 |
| openSNP | rs2230912 |
| 23andMe | rs2230912 |
| SNPshot | rs2230912 |
| SNPdbe | rs2230912 |
| MSV3d | rs2230912 |
| GWAS Ctlg | rs2230912 |
| GMAF | 0.06795 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2230912, also known as Q460R, is a SNP in the purinergic receptor P2X, ligand-gated ion channel, 7 P2RX7 gene.
This SNP has been reported to be associated with increased risk for bipolar disorder in one study [PMID 18268501], but the association was not replicated in a large UK case-control sample (bipolar I disorder N = 687, unipolar recurrent major depression N = 1,036, controls N = 1,204)[PMID 19160446].
The G allele is the putative risk allele.
[PMID 19330776] Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples
[PMID 20446288] Analysis of a polymorphic microRNA target site in the purinergic receptor P2RX7 gene
[PMID 16673375] Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.
[PMID 16822851] P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.
[PMID 18543274] Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach.
[PMID 18801407] P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patients.
[PMID 19319666
] Genetics of the P2X7 receptor and human disease.
[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 21335057] P2RX7 polymorphisms Gln460Arg and His155Tyr are not associated with major depressive disorder or remission after SSRI or ECT.
[PMID 21438144] P2RX7 gene is associated consistently with mood disorders and predicts clinical outcome in three clinical cohorts.
[PMID 22952630] P2RX7: Expression Responds to Sleep Deprivation and Associates with Rapid Cycling in Bipolar Disorder Type 1
[PMID 23819992] Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjogren's syndrome
[PMID 23602648] Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms
[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 25865535] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia
[PMID 30445384] Sex-specific effects of gain-of-function P2RX7 variation on bipolar disorder.
[PMID 30664971] Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms.
