rs11880992

This is a intron variant variant in the DOT1L gene.

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GWAS Catalog Trait Associations (6)

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

body height

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele A
OR 0.03
p 7.0e-28
N 253,288
Large GWAS
European
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele A
OR 1.15
p 2.0e-12
N 16,196
Meta-analysisLarge GWAS
European

whole body water mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 7.0e-25
N 394,642
Large GWAS
European

base metabolic rate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 4.0e-21
N 394,642
Large GWAS
European

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.02
p 1.0e-18
N 426,824
Large GWAS
European

cartilage thickness measurement

Castaño-Betancourt MC et al. “Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.” Plos Genetics 12(10):e1006260 (2016)
Allele A
OR 0.10
p 3.0e-16
N 13,013
Large GWAS
European

body weight

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 6.0e-13
N 525,535
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes
Meta-analysisN=21,240Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide meta-analysis of minimal joint space width (cartilage thickness proxy) in 21,240 participants identified four novel loci for cartilage thickness and osteoarthritis: TGFA (rs2862851, beta=-0.067), PIK3R1 (rs10471753, beta=0.062), FGFR3/SLBP (rs2236995, beta=0.049), and TREH/DDX6 (rs496547, beta=-0.058), plus two previously identified loci (DOT1L and RUNX2). This is the first report linking TGFA to human OA.

Traits studied:Cartilage thickness (minimal joint space width)Hip osteoarthritis
PubMedDOIMetascience Observatory

About DOT1L

The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]

View all DOT1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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