rs56211063

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (2)

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 0.44
p 9.0e-26
N 6,778
Meta-analysis
East Asian
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Research that mentions this SNP (1)

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Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1
AssociationN=2,370Yuki Hitomi et al.(2015)· Human Genetics

This study identified rs4979462 in the TNFSF15 locus as the causal variant for primary biliary cirrhosis (PBC) susceptibility in the Japanese population through integrated analysis including case-control association (n=1279 PBC cases, n=1091 controls; P=1.85×10⁻¹⁴, OR=1.57) and in vitro functional studies. The PBC-susceptible allele generates a novel NF-1 transcription factor binding site, enhancing TNFSF15 expression and increasing susceptibility to autoimmune liver disease.

Traits studied:Ankylosing spondylitisCrohn's diseaseLeprosyPrimary biliary cirrhosisUlcerative colitis
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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