rs12986413

This variant is located in the DOT1L gene.

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GWAS Catalog Trait Associations (2)

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

hemoglobin measurement

Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)

Allele T

OR —

β 0.032

p 8.0e-18

N 46,904

Large GWAS

European

body height

Lettre G et al. “Identification of ten loci associated with height highlights new biological pathways in human growth.” Nature Genetics 40(5):584-591 (2008)

Allele T

OR 0.31

p 3.0e-8

N 15,821

Large GWAS

European

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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci

AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature

PubMed DOI Metascience 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]