Genetic variant
rs4804416
rs4804416 is a single-letter difference in human DNA, on chromosome 19. 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 rs4804416 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 rs4804416, 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
- rs4804416
- Position
- chr19:7223837
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Height | G | β 0.021 | 1E-237 | PubMed |
| Thyroid stimulating hormone levels | G | β 0.054 | 4E-142 | PubMed |
| Thyroid stimulating hormone levels | T | β 0.054 | 3E-101 | PubMed |
| Hypothyroidism NOS (PheCode 244.4) | T | β 0.092 | 1E-56 | PubMed |
| Hypothyroidism (PheCode 244) | T | β 0.09 | 5E-56 | PubMed |
| triglyceride (mean, inv-norm transformed) | T | β 0.039 | 1E-40 | PubMed |
| triglyceride (maximum, inv-norm transformed) | T | β 0.037 | 2E-38 | PubMed |
| Hypothyroidism (PheCode 244) | T | β 0.082 | 7E-35 | PubMed |
| Thyroid stimulating hormone levels | G | β 0.055 | 2E-32 | PubMed |
| high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) | T | β 0.033 | 2E-29 | PubMed |
| high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) | T | β 0.034 | 3E-29 | PubMed |
| triglyceride (minimum, inv-norm transformed) | T | β 0.031 | 2E-27 | PubMed |
| Height | G | β 0.026 | 2E-26 | PubMed |
| Sex hormone-binding globulin levels | G | OR 1.2 | 9E-18 | PubMed |
| Goiter | G | OR 0.19 | 2E-15 | PubMed |
| Metabolic syndrome | — | β 0.011 | 4E-14 | PubMed |
| Metabolic dysfunction-associated steatotic liver disease (MTAG) | T | β 0.028 | 2E-11 | PubMed |
| Thyroid hormone levels | T | β 0.057 | 3E-10 | PubMed |
| Triglycerides | T | β 0.021 | 4E-8 | PubMed |
| Hypothyroidism | G | OR 1.13 | 5E-6 | PubMed |
Sources
- dbSNP: rs4804416 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies