Genetic variant
rs123698
rs123698 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 rs123698 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Polymorphism rs11085226 in the Gene Encoding Polypyrimidine Tract-Binding Protein 1 Negatively Affects Glucose-Stimulated Insulin Secretion
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 rs123698, 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
- rs123698
- Position
- chr19:807442
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hematocrit | C | — | 2E-53 | PubMed |
| Liver enzyme levels (gamma-glutamyl transferase) | G | β 0.008 | 7E-53 | PubMed |
| Hematocrit | C | β 0.03 | 4E-52 | PubMed |
| Hemoglobin concentration | C | — | 1E-47 | PubMed |
| Hemoglobin concentration | C | β 0.029 | 3E-46 | PubMed |
| Gamma glutamyltransferase levels (UKB data field 30730) | C | β 0.026 | 5E-46 | PubMed |
| Gamma glutamyl transpeptidase | C | β 0.032 | 5E-44 | PubMed |
| Gamma glutamyl transferase levels | C | β 0.034 | 2E-43 | PubMed |
| HDL cholesterol levels (UKB data field 30760) | C | β 0.02 | 1E-39 | PubMed |
| Haemoglobin concentration (UKB data field 30020) | C | β 0.021 | 2E-39 | PubMed |
| Gamma glutamyl transferase levels | C | β 0.027 | 5E-37 | PubMed |
| CSF1/LTBR protein level ratio | — | β 0.087 | 1E-35 | PubMed |
| CKAP4/LTBR protein level ratio | — | β 0.087 | 4E-35 | PubMed |
| Hematocrit | C | β 0.021 | 1E-32 | PubMed |
| LTBR protein levels | C | β 0.059 | 3E-28 | PubMed |
| IL13RA1 protein levels | C | β 0.067 | 6E-28 | PubMed |
| Red blood cell count | — | — | 5E-27 | PubMed |
| IRAK4/MAP2K6 protein level ratio | — | β 0.074 | 3E-26 | PubMed |
| Hematocrit | C | β 0.025 | 3E-25 | PubMed |
| SLAMF7 protein levels | C | β 0.042 | 5E-25 | PubMed |
Sources
- dbSNP: rs123698 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies