Genetic variant

rs11978267 a variant in the IKZF1 gene

rs11978267 is a single-letter difference in the IKZF1 gene, on chromosome 7. ClinVar, the public archive of variant interpretations, lists it as association: seen more often in people with a condition, which is not the same as causing it. It has been reported in connection with Leukemia, acute lymphocytic, susceptibility to and 2. Carrying it does not, on its own, mean you have or will develop any condition.

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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 rs11978267 is the catalogue number of one of them, in the IKZF1 gene. Which letters you carry there — one copy from each parent — is your genotype.

IKZF1 (IKAROS family zinc finger 1): This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene description from NCBI Gene

Why might it matter?

ClinVar records this variant as association, meaning seen more often in people with a condition, which is not the same as causing it. 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 rs11978267, if your test read this position.

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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.

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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.
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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
rs11978267
Gene
IKZF1
Position (GRCh38)
chr7:50398605
Variant type
snv
Consequence
intron variant
ClinVar classification
association

Genome-wide association studies (4)

TraitRisk alleleOR / betaP-valueStudy
Acute lymphoblastic leukemia (childhood) A OR 1.43 2E-29 PubMed
Acute lymphoblastic leukemia (childhood) G OR 1.69 8E-11 PubMed
Acute lymphoblastic leukemia (childhood) G OR 1.43 9E-11 PubMed
Type 1 diabetes G OR 0.91 3E-8 PubMed

How common the less frequent letter is

1kG AFR
83.3%
1kG ALL
77.3%
1kG AMR
76.7%
1kG EAS
88.1%
1kG EUR
67.9%
1kG SAS
31.6%

Sources