rs4987855

This variant is located in the BCL2 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 3.0e-25
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

chronic lymphocytic leukemia

Berndt SI et al. “Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.” Nature Genetics 45(8):868-76 (2013)
Allele G
OR 1.47
p 3.0e-12
N 8,400
Large GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.01
p 1.0e-11
N 368,929
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

About BCL2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all BCL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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