rs4758317

This is a regulatory region variant variant in the LMO1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.01

p 3.0e-77

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

HbA1c 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 3.0e-14

N 394,642

Large GWAS

European

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Research that mentions this SNP (1)

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A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks

Meta-analysisN=4,915Manav Kapoor et al.(2013)· Human Genetics

A meta-analysis of two genome-wide association studies (COGA and SAGE) identifying genetic variants associated with maximum number of alcoholic drinks consumed in 24 hours (maxdrinks). The study combined 4,915 participants of European descent and found suggestive associations with multiple loci including rs1229984 (ADH1B, p=2.04×10⁻⁸), rs4758317 (LMO1, p=7.2×10⁻⁷), and variants in PLCL1 (p=4.07×10⁻⁶). Approximately 40% of the variance in maxdrinks was explained by genome-wide SNPs.

Traits studied:Alcohol dependenceExcessive alcohol consumptionMaximum number of alcoholic drinks in 24-hour period

PubMed DOI Metascience Observatory

About LMO1

This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]