rs2280401

This is a regulatory region variant variant in the RPS11 gene.

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GWAS Catalog Trait Associations (11)

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

serum albumin amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.12
p 3.0e-138
N 153,950
Large GWAS
East Asian
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 5.0e-79
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
Franceschini N et al. “Discovery and fine mapping of serum protein loci through transethnic meta-analysis.” American Journal of Human Genetics 91(4):744-53 (2012)
Allele A
OR 0.01
p 6.0e-9
N 62,570
Meta-analysisLarge GWAS
multi-ancestry
Kim YJ et al. “Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.” Nature Genetics 43(10):990-5 (2011)
Allele A
OR 0.03
p 9.0e-13
N 12,545
Large GWAS
East Asian

blood protein amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.07
p 3.0e-83
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.05
p 2.0e-21
N 153,950
Large GWAS
East Asian
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-10
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 4.0e-17
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

calcium measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 1.0e-15
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry

aspartate aminotransferase measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.03
p 2.0e-12
N 288,127
Large GWAS
East Asian

free cholesterol in small LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-10
N 136,016
Large GWAS
multi-ancestry

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 7.0e-10
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

aspartate aminotransferase to alanine aminotransferase ratio

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-9
N 354,455
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 3.0e-9
N 472,730
Large GWAS
East Asian

About RPS11

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]

View all RPS11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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