rs7674640

This is a downstream gene variant variant in the LOC105377347 gene.

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GWAS Catalog Trait Associations (1)

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

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele C
OR 0.22
p 2.0e-22
N 24,510
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity
AssociationN=764Ovsyannikova IG et al.(2011)· Human Genetics

This study examined associations between polymorphisms in 454 Toll-like receptor (TLR) and related signaling gene SNPs and measles vaccine-specific immune responses in 764 subjects. The major allele of TLR2 rs3804100 was associated with increased antibody response (660 vs. 892 mIU/ml, p=0.002), while TLR4 rs5030710 showed decreased response (2,209 vs. 830 mIU/ml, p=0.001). A MAP3K7 haplotype was associated with lower antibody levels (p=0.01), and TLR-related SNPs including rs3748022 (IKBKE Pro713Leu), rs1786704 (TIRAP), rs702966 (KIAA1542/IRF7), and others were associated with variations in measles-specific cytokine responses (IL-2, IL-6, IL-10, IFNα, IFNγ, IFNλ-1, TNFα).

Traits studied:IFNγ Elispot responseMeasles vaccine immunityMeasles-specific IFNα secretionMeasles-specific IFNγ secretionMeasles-specific IFNλ-1 secretionMeasles-specific IL-10 secretionMeasles-specific IL-2 secretionMeasles-specific IL-6 secretionMeasles-specific TNFα secretionMeasles-specific antibody response
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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