Genetic variant

rs2168101 a variant in the LMO1 gene

rs2168101 is a single-letter difference in the LMO1 gene, on chromosome 11. ClinVar, the public archive of variant interpretations, lists it as benign: not known to cause disease. It has been reported in connection with LMO1 polymorphism and Neuroblastoma, susceptibility to, among others. Carrying it does not, on its own, mean you have or will develop any condition.

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs2168101 is the catalogue number of one of them, in the LMO1 gene. Which letters you carry there — one copy from each parent — is your genotype.

LMO1 (LIM domain only 1): 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.

Gene description from NCBI Gene

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism: SNP rs216810...

From SNPedia

Why might it matter?

ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs2168101, if your test read this position.

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs2168101
Gene
LMO1
Position
chr11:8233861
ClinVar classification
Benign; protective

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Glutamine levels A β 0.07 2E-208 PubMed
Alanine levels A β 0.06 2E-151 PubMed
Glutamine levels C β 0.067 2E-48 PubMed
Glutamine levels C β 0.066 3E-46 PubMed
Glycine levels A β 0.03 3E-43 PubMed
Fasting blood glucose A β 0.024 2E-42 PubMed
Tyrosine levels A β 0.03 2E-40 PubMed
Height (maximum, inv-normal transformed) C β 0.042 5E-37 PubMed
Glutamine levels A β 0.059 1E-35 PubMed
Glutamine levels (UKB data field 23461) A β 0.063 4E-33 PubMed
height (mean, inv-normal transformed) C β 0.039 9E-33 PubMed
Alanine levels C β 0.053 1E-30 PubMed
Alanine levels C β 0.052 1E-29 PubMed
Alanine levels (UKB data field 23460) A β 0.05 7E-27 PubMed
height (minimum, inv-normal transformed) C β 0.033 1E-24 PubMed
Albumin levels A β 0.019 2E-24 PubMed
Histidine levels A β 0.02 5E-23 PubMed
Total concentration of branched-chain amino acids (leucine + isoleucine + valine) A β 0.02 2E-22 PubMed
Valine levels A β 0.02 6E-22 PubMed
Leucine levels A β 0.02 1E-21 PubMed

Sources