Genetic variant
rs477992
rs477992 is a single-letter difference in human DNA, on chromosome 1. 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 rs477992 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 rs477992, 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
- rs477992
- Position
- chr1:119714953
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Serine levels | G | OR 22.27 | 8E-110 | PubMed |
| Glycine levels | G | β 0.03 | 2E-55 | PubMed |
| Serine levels | A | OR 0.18 | 4E-31 | PubMed |
| Red blood cell count | G | β 0.022 | 2E-29 | PubMed |
| Red blood cell count | G | — | 2E-26 | PubMed |
| Serine levels | A | β 0.04 | 3E-21 | PubMed |
| Hereditary and idiopathic peripheral neuropathy (PheCode 356) | A | β 0.071 | 2E-19 | PubMed |
| Red blood cell count | A | β 0.017 | 4E-19 | PubMed |
| Red blood cell count | G | β 0.018 | 6E-18 | PubMed |
| Hematocrit | G | β 0.016 | 2E-16 | PubMed |
| Alanine levels | G | β 0.02 | 3E-16 | PubMed |
| Chronic ulcer of leg or foot (PheCode 707.2) | A | β 0.083 | 2E-15 | PubMed |
| Glycine levels | A | β 0.03 | 5E-15 | PubMed |
| red blood cell count (RBC, mean, inv-norm transformed) | A | β 0.022 | 7E-15 | PubMed |
| Chronic ulcer of skin (PheCode 707) | A | β 0.069 | 1E-14 | PubMed |
| Metabolic traits | A | β 0.051 | 3E-14 | PubMed |
| Hemoglobin concentration | G | β 0.015 | 1E-13 | PubMed |
| red blood cell count (RBC, minimum, inv-norm transformed) | A | β 0.018 | 6E-12 | PubMed |
| Acute osteomyelitis (PheCode 710.11) | A | OR 0.12 | 2E-11 | PubMed |
| Osteomyelitis (PheCode 710.1) | A | β 0.088 | 3E-11 | PubMed |
Sources
- dbSNP: rs477992 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies