rs110419

This is a intron variant variant in the LMO1 gene.

▶

GWAS Catalog Trait Associations (2)

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

neuroblastoma

Wang K et al. “Integrative genomics identifies LMO1 as a neuroblastoma oncogene.” Nature 469(7329):216-20 (2011)
Allele A
OR 1.34
p 5.0e-16
N 4,881
Large GWAS
European
Diskin SJ et al. “Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.” Nature Genetics 44(10):1126-30 (2012)
Allele A
OR 1.32
p 1.0e-13
N 6,303
Large GWAS
multi-ancestry

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.11
p 1.0e-11
N 1,028,980
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
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
PubMedDOIMetascience 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]

View all LMO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…