P2RX6, purinergic receptor P2X 6, 9127

N. diseases: 85; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2075277
rs2075277
Entrez Id: 9127
Gene Symbol: P2RX6
P2RX6
CUI: C0341106
Disease:
Eosinophilic esophagitis
0.700 GeneticVariation GWASCAT Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. 25017104 2014
dbSNP: rs1483068801
rs1483068801
Entrez Id: 9127
Gene Symbol: P2RX6
P2RX6
CUI: C0018213
Disease:
Graves Disease
0.010 GeneticVariation BEFREE A single-nucleotide polymorphism, rs3827440, encoding Ser162Pro, has recently been associated with Graves' disease in Chinese and Polish populations, suggesting a role of this X chromosome gene in autoimmune disease. 25295623 2015
dbSNP: rs1483068801
rs1483068801
Entrez Id: 9127
Gene Symbol: P2RX6
P2RX6
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE A single-nucleotide polymorphism, rs3827440, encoding Ser162Pro, has recently been associated with Graves' disease in Chinese and Polish populations, suggesting a role of this X chromosome gene in autoimmune disease. 25295623 2015
dbSNP: rs769112655
rs769112655
Entrez Id: 9127
Gene Symbol: P2RX6
P2RX6
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Pairwise linkage disequilibrium was observed between Tyr315Cys in the P2RX4 gene and Gly150Arg in the P2RX7 gene, and these two minor alleles formed a rare haplotype that was overrepresented in patients with AMD (n=17) compared with control subjects (n=3) (odds ratio 4.05, P=0.026). 23303206 2013
dbSNP: rs144110687
rs144110687
Entrez Id: 9127
Gene Symbol: P2RX6
P2RX6
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE The aim of the study was to assess the frequency of both 1513A>C and 489C>T polymorphisms in patients with papillary thyroid carcinoma (PTC) and to evaluate the possible association with clinical and histological features. 19017759 2009