rs2013208

This variant is located in the RBM5 gene.

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GWAS Catalog Trait Associations (7)

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

free cholesterol to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 4.0e-36
N 450,015
Large GWAS
multi-ancestry

intelligence

Savage JE et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nature Genetics 50(7):912-919 (2018)
Allele T
OR 9.78
p 1.0e-22
N 269,867
Meta-analysisLarge GWAS
European

level of phosphatidylcholine

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 7.0e-18
N 450,015
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele T
OR 0.03
p 1.0e-12
N 222,097
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR —
β 0.025
p 9.0e-12
N 94,595
Large GWAS
European
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
β 0.005
p 5.0e-10
N 71,394
Large GWAS
multi-ancestry

HDL cholesterol change measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)
Allele T
OR —
p 1.0e-10
N 120,979
Large GWAS
multi-ancestry

alcohol consumption quality, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 3.0e-13
N 71,394
Large GWAS
multi-ancestry

alcohol drinking, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 4.0e-12
N 127,326
Large GWAS
multi-ancestry

About RBM5

This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]

View all RBM5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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