Genetic variant
rs1053878
rs1053878 is a single-letter difference in human DNA, on chromosome 9. 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 rs1053878 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Influences ABO blood group ABO Blood Type [OMIM:?]
From SNPedia
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 rs1053878, 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
- rs1053878
- Position
- chr9:133256264
Genome-wide association studies (10)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| CDH17/PTPRM protein level ratio | — | OR 0.25 | 9E-80 | PubMed |
| CDH1/CDH17 protein level ratio | — | OR 0.24 | 1E-72 | PubMed |
| CDH17/PECAM1 protein level ratio | — | OR 0.24 | 2E-69 | PubMed |
| FAM3B/TMPRSS15 protein level ratio | — | OR 0.19 | 2E-47 | PubMed |
| ICAM2/SELE protein level ratio | — | OR 0.18 | 3E-42 | PubMed |
| REG1A/REG3A protein level ratio | — | OR 0.13 | 6E-22 | PubMed |
| Serum levels of protein CD209 | A | OR 0.38 | 3E-21 | PubMed |
| REG1B/REG3A protein level ratio | — | OR 0.12 | 5E-20 | PubMed |
| High-density lipoprotein levels | A | β 0.028 | 6E-13 | PubMed |
| Venous thromboembolism | — | OR 0.14 | 1E-10 | PubMed |
Sources
- dbSNP: rs1053878 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies