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rs208294

From SNPedia

Orientationminus
Stabilizedminus
Make rs208294(A;A)
Make rs208294(A;G)
Make rs208294(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position121162450
GeneP2RX7
is asnp
is mentioned by
dbSNPrs208294
ebirs208294
HLIrs208294
Exacrs208294
Varsomers208294
Maprs208294
PheGenIrs208294
hapmaprs208294
1000 genomesrs208294
hgdprs208294
ensemblrs208294
gopubmedrs208294
geneviewrs208294
scholarrs208294
googlers208294
pharmgkbrs208294
gwascentralrs208294
openSNPrs208294
23andMers208294
23andMe allrs208294
SNP Nexus

SNPshotrs208294
SNPdbers208294
MSV3drs208294
GWAS Ctlgrs208294
GMAF0.4614
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 22623165] NEUROTICISM MEDIATES THE EFFECT OF P2RX7 ON OUTCOMES OF MOOD DISORDERS


[PMID 19319666OA-icon.png] Genetics of the P2X7 receptor and human disease.


[PMID 19838818OA-icon.png] Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.


[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 21906809] Gain-of-function of P2X7 receptor gene variants in multiple sclerosis.


GET Evidence
P2RX7-Y155H
aa_change Tyr155His
aa_change_short Y155H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.599833
summary



[PMID 22661222OA-icon.png] P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.


[PMID 22776862OA-icon.png] Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.


[PMID 24934217OA-icon.png] Gain and loss of function of P2X7 receptors: mechanisms, pharmacology and relevance to diabetic neuropathic pain


[PMID 25865535] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia