rs2236496

This is a intron variant variant in the RCL1 gene.

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GWAS Catalog Trait Associations (2)

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

erythrocyte volume

van der Harst P et al. “Seventy-five genetic loci influencing the human red blood cell.” Nature 492(7429):369-75 (2012)

Allele C

OR 0.28

p 1.0e-19

N 71,861

Large GWAS

multi-ancestry

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele C

OR 0.09

p 3.0e-14

N 14,364

Large GWAS

East Asian

hemoglobin measurement, mean corpuscular hemoglobin

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele C

OR 0.08

p 6.0e-11

N 14,362

Large GWAS

East Asian

About RCL1

Predicted to enable RNA endonuclease activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]

View all RCL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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