Genetic variant

rs3741240 a variant in the SCGB1A1 gene

rs3741240 is a single-letter difference in the SCGB1A1 gene, on chromosome 11. 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. 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 rs3741240 is the catalogue number of one of them, in the SCGB1A1 gene. Which letters you carry there — one copy from each parent — is your genotype.

SCGB1A1 (secretoglobin family 1A member 1): This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010]

Gene description from NCBI Gene

asthma phenotype in childhood OR=7.84, 95&#37

From SNPedia

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 rs3741240, 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
rs3741240
Gene
SCGB1A1
Position
chr11:62419070
ClinVar classification
Established risk allele; association

Genome-wide association studies (6)

TraitRisk alleleOR / betaP-valueStudy
SCGB3A1 protein levels A OR 0.12 3E-125 PubMed
SCGB3A2 protein levels A OR 0.12 7E-107 PubMed
Serum CC16 levels G OR 0.18 2E-59 PubMed
Chronic obstructive pulmonary disease-related biomarkers A — 1E-26 PubMed
Serum levels of protein SCGB3A1 A OR 0.15 2E-13 PubMed
SCGB1A1 protein levels — OR 0.2 2E-8 PubMed

Sources