Genetic variant

rs4950928 a variant in the CHI3L1 gene

rs4950928 is a single-letter difference in the CHI3L1 gene, on chromosome 1. ClinVar, the public archive of variant interpretations, lists it as risk factor: linked to a somewhat higher chance of a condition, not a cause on its own. It has been reported in connection with Asthma-related traits, susceptibility to and 7. 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 rs4950928 is the catalogue number of one of them, in the CHI3L1 gene. Which letters you carry there — one copy from each parent — is your genotype.

CHI3L1 (chitinase 3 like 1): Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells.

Gene description from NCBI Gene

rs4950928 in CHI3L1 is likely to play roles in the predisposition to schizophrenia. An attempt to re...

From SNPedia

Why might it matter?

ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. 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 rs4950928, 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
rs4950928
Gene
CHI3L1
Position
chr1:203186754
ClinVar classification
risk factor

Genome-wide association studies (6)

TraitRisk alleleOR / betaP-valueStudy
CHI3L1/HSPG2 protein level ratio — OR 0.73 2E-1839 PubMed
CHI3L1/PRSS8 protein level ratio — OR 0.72 2E-1731 PubMed
CD55/CHI3L1 protein level ratio — OR 0.71 1E-1726 PubMed
Chitinase-3-like protein 1 levels — OR 0.82 2E-125 PubMed
CHI3L1 protein levels C OR 0.74 9E-36 PubMed
YKL-40 levels G OR 0.3 1E-13 PubMed

Sources