Genetic variant
rs1480380
rs1480380 is a single-letter difference in human DNA, on chromosome 6. 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 rs1480380 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
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 rs1480380, 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
- rs1480380
- Position
- chr6:32945469
Genome-wide association studies (11)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Idiopathic membranous nephropathy | T | OR 3.05 | 4E-39 | PubMed |
| CTSO/IGF2R protein level ratio | — | OR 0.14 | 6E-34 | PubMed |
| Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) | A | — | 6E-23 | PubMed |
| Hemoglobin concentration | T | β 0.049 | 7E-16 | PubMed |
| Cholesteryl Esters to Total Lipids in Large LDL percentage | T | β 0.036 | 6E-15 | PubMed |
| Seropositivity for streptococcus pneumoniae peptide (agilent_223208) | — | OR 6.66 | 3E-11 | PubMed |
| Monounsaturated fatty acids to total fatty acids percentage | T | — | 3E-11 | PubMed |
| Polyunsaturated fatty acids to monounsaturated fatty acids ratio | T | — | 3E-10 | PubMed |
| Polyunsaturated fatty acids to monounsaturated fatty acids ratio | T | — | 8E-9 | PubMed |
| Bipolar disorder or inflammatory bowel disease (MTAG) | C | β 0.022 | 2E-8 | PubMed |
| Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | C | — | 6E-7 | PubMed |
Sources
- dbSNP: rs1480380 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies