rs1540283
This variant is located in the PHEX gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
response to vaccine, cytokine measurement
▶Research that mentions this SNP (1)
▶Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipientsAssociationN=1,000Kennedy RB et al.(2012)· Human Genetics
Genome-wide association study identifying SNPs associated with cytokine responses to vaccinia virus in 1,000 smallpox vaccine recipients. Multiple SNPs achieved genome-wide significance (p<5×10⁻⁷) for Th1 cytokines (IL-2, TNFα, IL-12p40) and inflammatory cytokines (IL-1β, IFNα, IL-6). Notable findings include rs16948200 in NGFR (12-fold difference in IL-2 secretion between genotypes), rs4251424 in IRAK4 (associated with TNFα), and rs2255327 in BLK (2-fold higher IL-6 in heterozygotes).
About PHEX
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
View all PHEX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…