Genetic variant
rs1175550
rs1175550 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 rs1175550 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 rs1175550, 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
- rs1175550
- Position
- chr1:3774964
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) | A | OR 0.11 | 1E-234 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | A | OR 0.1 | 1E-198 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) | A | β 0.086 | 5E-139 | PubMed |
| Mean corpuscular hemoglobin concentration | G | β 0.057 | 5E-123 | PubMed |
| Mean corpuscular hemoglobin concentration | G | — | 5E-119 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) | A | β 0.079 | 5E-117 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | A | β 0.074 | 3E-105 | PubMed |
| Mean corpuscular hemoglobin concentration | G | β 0.055 | 8E-93 | PubMed |
| High light scatter reticulocyte count | G | β 0.052 | 8E-85 | PubMed |
| Mean spheric corpuscular volume | G | β 0.05 | 6E-80 | PubMed |
| Reticulocyte count | G | β 0.05 | 9E-79 | PubMed |
| Reticulocyte count (UKB data field 30250) | G | β 0.043 | 3E-78 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) | A | β 0.06 | 1E-77 | PubMed |
| High light scatter reticulocyte percentage (UKB data field 30290) | G | β 0.043 | 8E-76 | PubMed |
| High light scatter reticulocyte percentage of red cells | G | β 0.048 | 5E-72 | PubMed |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | G | β 0.038 | 8E-69 | PubMed |
| Reticulocyte percentage (UKB data field 30240) | G | β 0.04 | 4E-66 | PubMed |
| Reticulocyte fraction of red cells | G | β 0.045 | 1E-64 | PubMed |
| Red cell distribution width | — | — | 2E-63 | PubMed |
| Mean sphered cell volume (UKB data field 30270) | G | β 0.038 | 3E-63 | PubMed |
Sources
- dbSNP: rs1175550 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies