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rs1718119

From SNPedia

Orientationminus
Stabilizedminus
Make rs1718119(C;C)
Make rs1718119(C;T)
Make rs1718119(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position121177300
GeneP2RX7
is asnp
is mentioned by
dbSNPrs1718119
ebirs1718119
HLIrs1718119
Exacrs1718119
Varsomers1718119
Maprs1718119
PheGenIrs1718119
hapmaprs1718119
1000 genomesrs1718119
hgdprs1718119
ensemblrs1718119
gopubmedrs1718119
geneviewrs1718119
scholarrs1718119
googlers1718119
pharmgkbrs1718119
gwascentralrs1718119
openSNPrs1718119
23andMers1718119
23andMe allrs1718119
SNP Nexus

SNPshotrs1718119
SNPdbers1718119
MSV3drs1718119
GWAS Ctlgrs1718119
GMAF0.3081
Max Magnitude
? (C;C) (C;T) (T;T) 28
[PMID 20535134OA-icon.png] 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 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 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.


GET Evidence
P2RX7-A348T
aa_change Ala348Thr
aa_change_short A348T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.416992
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 23435013] Association of P2X7R gene polymorphisms with systemic lupus erythematosus in a Chinese population.


[PMID 24934217OA-icon.png] 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