Genetic variant

rs13118928 a variant in the HHIP gene

rs13118928 is a single-letter difference in the HHIP gene, on chromosome 4. 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 Chronic obstructive pulmonary disease, biomass related. 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 rs13118928 is the catalogue number of one of them, in the HHIP gene. Which letters you carry there — one copy from each parent — is your genotype.

HHIP (hedgehog interacting protein): This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development.

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 rs13118928, 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
rs13118928
Gene
HHIP
Position (GRCh38)
chr4:144565236
Variant type
snv
Consequence
intron variant
ClinVar classification
association

Genome-wide association studies (5)

TraitRisk alleleOR / betaP-valueStudy
Post bronchodilator FEV1/FVC ratio A β 0.016 3E-16 PubMed
Post bronchodilator FEV1 A β 0.067 1E-12 PubMed
Chronic obstructive pulmonary disease — OR 1.25 5E-7 PubMed
Post bronchodilator FEV1/FVC ratio in COPD A β 0.011 3E-6 PubMed
Heart rate response to beta blockers (atenolol add-on therapy) A OR 5.44 9E-6 PubMed

How common the less frequent letter is

1kG AFR
8.5%
1kG ALL
29.8%
1kG AMR
30.4%
1kG EAS
68.6%
1kG EUR
57.8%
1kG SAS
43.6%

Sources