rs1415701

This is a intron variant variant in the L3MBTL3 gene.

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GWAS Catalog Trait Associations (13)

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

body height

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 0.04
p 4.0e-53
N 153,950
Large GWAS
East Asian
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele A
OR 0.04
p 1.0e-15
N 67,452
Large GWAS
East Asian
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele A
OR 0.06
p 1.0e-24
N 36,227
Meta-analysisLarge GWAS
East Asian
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 1.19
p 5.0e-13
N 16,196
Meta-analysisLarge 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 0.03
p 1.0e-22
N 165,419
Large GWAS
East Asian

glycine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 8.0e-16
N 450,015
Large GWAS
multi-ancestry

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 7.98
p 2.0e-15
N 33,748
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 2.0e-14
N 426,824
Large GWAS
European
Kemp JP et al. “Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.” Nature Genetics 49(10):1468-1475 (2017)
Allele G
OR 0.03
p 4.0e-10
N 142,487
Large GWAS
European

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele A
OR —
p 3.0e-14
N 2,535,601
Large GWAS
multi-ancestry

fat pad 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 9.0e-12
N 394,642
Large GWAS
European

birth weight

Horikoshi M et al. “Genome-wide associations for birth weight and correlations with adult disease.” Nature 538(7624):248-252 (2016)
Allele G
OR 0.03
p 4.0e-11
N 142,558
Large GWAS
multi-ancestry
Yang XL et al. “Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.” Frontiers in Genetics 10:947 (2019)
Allele G
OR 0.03
p 3.0e-9
N 182,902
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 1.0e-10
N 186,825
Major Consortium StudyLarge GWAS
European

About L3MBTL3

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]

View all L3MBTL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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