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rs3751143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs3751143(G;G)
Make rs3751143(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position121184501
GeneP2RX7
is asnp
is mentioned by
dbSNPrs3751143
ebirs3751143
HLIrs3751143
Exacrs3751143
Varsomers3751143
Maprs3751143
PheGenIrs3751143
hapmaprs3751143
1000 genomesrs3751143
hgdprs3751143
ensemblrs3751143
gopubmedrs3751143
geneviewrs3751143
scholarrs3751143
googlers3751143
pharmgkbrs3751143
gwascentralrs3751143
openSNPrs3751143
23andMers3751143
23andMe allrs3751143
SNP Nexus

SNPshotrs3751143
SNPdbers3751143
MSV3drs3751143
GWAS Ctlgrs3751143
GMAF0.1919
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 20488797OA-icon.png] P2X7 Receptor-Mediated Killing of an Intracellular Parasite, Toxoplasma gondii, by Human and Murine Macrophages


[PMID 22662160OA-icon.png] 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 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.


[PMID 19319666OA-icon.png] 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 19838818OA-icon.png] Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.


[PMID 20196868OA-icon.png] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.


GET Evidence
P2RX7-E496A
aa_change Glu496Ala
aa_change_short E496A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.149005
summary



GWAS snp
PMID [PMID 23144326OA-icon.png]
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 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 23648388] Association of P2X7 receptor gene polymorphisms with sporadic Parkinson's disease in a Han Chinese population.


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