rs3397

This is a 3 prime utr variant variant in the TNFRSF1B gene.

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GWAS Catalog Trait Associations (1)

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

tumor necrosis factor receptor superfamily member 1B amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.04

p 9.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Uncertain Significance

1 submitter

Associated with severe COVID-19 disease; Susceptibility to severe coronavirus disease (COVID-19); Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR3

View on ClinVar →

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Research that mentions this SNP (1)

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P‐selectin genotype is associated with the development of cancer cachexia

AssociationN=876Tan BH et al.(2012)· EMBO Molecular Medicine

Genetic association study of cancer cachexia identified 129 SNPs in 80 candidate genes in 775 cancer patients. The C allele of rs6136 in the SELP gene (encoding P-selectin) was significantly associated with reduced risk of cancer cachexia (weight loss >10%) in both the main study (OR 0.52; p=0.026) and validation cohort (OR 0.09; p=0.035). Multiple other genes including APEH, GHRL, TNFRSF1A, and CNR1 showed significant associations with cachexia-related traits.

Traits studied:Cancer cachexiaSerum P-selectin levelsWeight loss >10%Weight loss >15%Weight loss >5%Weight loss with systemic inflammation

PubMed DOI Metascience Observatory

About TNFRSF1B

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]