Genetic variant
rs35705950 a variant in the MUC5B gene
rs35705950 is a single-letter difference in the MUC5B 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 Pulmonary fibrosis, idiopathic, susceptibility to and Interstitial lung disease 2, 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 rs35705950 is the catalogue number of one of them, in the MUC5B gene. Which letters you carry there — one copy from each parent — is your genotype.
MUC5B (mucin 5B, oligomeric mucus/gel-forming): This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus.
Gene description from NCBI Gene
rs35705950 is a SNP located 3 kb upstream of the start of transcription from the mucin 5B MUC5B gene...
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
- Pulmonary fibrosis, idiopathic, susceptibility to
- Interstitial lung disease 2
- Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B
- Antisynthetase syndrome
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 rs35705950, 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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs35705950
- Gene
- MUC5B
- Position
- chr11:1219991
- ClinVar classification
- Benign; risk factor
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Idiopathic pulmonary fibrosis | T | OR 5.06 | 9E-418 | PubMed |
| Other alveolar and parietoalveolar pneumonopathy (PheCode 504) | G | OR 0.99 | 1E-323 | PubMed |
| Postinflammatory pulmonary fibrosis (PheCode 502) | G | OR 0.87 | 1E-323 | PubMed |
| Other alveolar and parietoalveolar pneumonopathy (PheCode 504) | G | OR 0.98 | 1E-278 | PubMed |
| Postinflammatory pulmonary fibrosis (PheCode 502) | G | OR 0.86 | 5E-257 | PubMed |
| Idiopathic fibrosing alveolitis (PheCode 504.1) | G | OR 1.07 | 5E-245 | PubMed |
| Idiopathic pulmonary fibrosis | T | OR 4.84 | 1E-203 | PubMed |
| Idiopathic fibrosing alveolitis (PheCode 504.1) | G | OR 1.06 | 2E-178 | PubMed |
| Interstitial lung disease | T | OR 1.01 | 1E-76 | PubMed |
| Idiopathic pulmonary fibrosis | T | OR 2.89 | 1E-66 | PubMed |
| Pulmonary fibrosis | T | OR 1.12 | 2E-65 | PubMed |
| Idiopathic pulmonary fibrosis | T | OR 2.43 | 2E-50 | PubMed |
| white blood cell count (WBC, mean, inv-norm transformed) | G | β 0.061 | 3E-44 | PubMed |
| Other alveolar and parietoalveolar pneumonopathy (PheCode 504) | G | OR 1.2 | 6E-33 | PubMed |
| Postinflammatory pulmonary fibrosis (PheCode 502) | G | OR 1.08 | 2E-31 | PubMed |
| white blood cell count (WBC, minimum, inv-norm transformed) | G | β 0.05 | 8E-31 | PubMed |
| Subpleural-predominant interstitial lung abnormalities | T | OR 2.22 | 2E-29 | PubMed |
| neutrophil (absolute count, mean, inv-norm transformed) | G | β 0.053 | 2E-29 | PubMed |
| Interstitial lung abnormalities | T | OR 1.98 | 4E-27 | PubMed |
| neutrophil (absolute count, minimum, inv-norm transformed) | G | β 0.051 | 2E-26 | PubMed |
Sources
- dbSNP: rs35705950 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: MUC5B
- Ensembl: MUC5B
- GWAS Catalog — association studies