rs17252936

This variant is located in the MAMLD1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients
AssociationN=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).

Traits studied:Cytokine response to vaccinia virusIFN alpha secretionIFN beta secretionIL-1 beta secretionIL-10 secretionIL-12p40 secretionIL-12p70 secretionIL-18 secretionIL-2 secretionIL-4 secretionIL-6 secretionInflammatory responseTNF alpha secretionTh1 immune responseTh2 immune response
PubMedDOIMetascience Observatory

About MAMLD1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

View all MAMLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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