rs4987856

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GWAS Catalog Trait Associations (4)

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

lymphocyte count

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 0.02
p 1.0e-14
N 394,642
Large GWAS
European

apoptosis regulator BCL-2 measurement

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 0.07
p 2.0e-13
N 47,745
Large GWAS
European

chronic lymphocytic leukemia

Berndt SI et al. “Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.” Nature Communications 7:10933 (2016)
Allele C
OR 1.45
p 4.0e-11
N 10,767
Meta-analysisLarge GWAS
multi-ancestry

Thyroid stimulating hormone level

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.02
p 3.0e-10
N 482,873
Large GWAS
European
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Research that mentions this SNP (1)

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Impact of BCL2 polymorphisms on survival in transitional cell carcinoma of the bladder
AssociationN=179Jochen Hess et al.(2017)· Journal of Cancer Research and Clinical Oncology

This study examined three BCL2 single-nucleotide polymorphisms (c.-938C>A rs2279115, c.21G>A rs1801018, and c.*2203A>G rs4987853) in 179 bladder cancer patients and found significant associations with survival outcomes. The c.-938C>A polymorphism was associated with relapse-free survival (p=0.024), while c.21G>A showed stronger associations with both relapse-free survival (p=0.009) and progression-free survival (p=0.012), demonstrating pronounced allele dose effects in both cases. The c.*2203A>G polymorphism showed no significant survival associations.

Traits studied:Bladder cancerOverall survivalProgression-free survivalRelapse-free survivalTransitional cell carcinoma of the bladder
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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