P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Disease: Osteopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28360457
rs28360457
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029453
Disease:
Osteopenia 		0.020 GeneticVariation BEFREE We found that the rate of bone loss was clearly associated with the Arg307Gln amino acid substitution such that individuals heterozygous for this polymorphism had a 40% increased rate of bone loss. 22274585 2012
dbSNP: rs28360457
rs28360457
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029453
Disease:
Osteopenia 		0.020 GeneticVariation BEFREE This is the first report that describes association of the c.946A (p.Arg307Gln) LOF SNP with low LS-BMD, and that other LOF SNPs, which result in reduced or no function of the P2X7 receptor, may contribute to accelerated bone loss. 22234152 2012
dbSNP: rs1653624
rs1653624
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029453
Disease:
Osteopenia 		0.010 GeneticVariation BEFREE Furthermore, individuals carrying the Ile568Asn variant allele had increased bone loss. 22274585 2012
dbSNP: rs2230912
rs2230912
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029453
Disease:
Osteopenia 		0.010 GeneticVariation BEFREE In contrast, the Gln460Arg polymorphism was associated with protection against bone loss. 22274585 2012