Genetic variant
rs2736100
rs2736100 is a single-letter difference in human DNA, on chromosome 5. 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 rs2736100 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
23andMe blog rs2736100 C 1.27 Glioma Lung cancer susceptibility locus at 5p15.33. Common genetic var...
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 rs2736100, 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
- rs2736100
- Position
- chr5:1286401
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Platelet count | A | — | 8E-122 | PubMed |
| Telomere length | — | — | 5E-79 | PubMed |
| Prostate-specific antigen levels | A | β 0.024 | 5E-43 | PubMed |
| Mean corpuscular hemoglobin | A | β 0.043 | 5E-34 | PubMed |
| EGFR mutation-positive lung adenocarcinoma | G | OR 1.42 | 2E-31 | PubMed |
| lymphocyte (fraction, maximum, inv-norm transformed) | C | β 0.032 | 2E-29 | PubMed |
| lymphocyte (fraction, mean, inv-norm transformed) | C | β 0.03 | 3E-28 | PubMed |
| Lung cancer | C | OR 1.27 | 1E-27 | PubMed |
| Lung cancer | G | OR 1.38 | 4E-27 | PubMed |
| neutrophil (fraction, minimum, inv-norm transformed) | C | β 0.032 | 6E-27 | PubMed |
| hematocrit (maximum, inv-norm transformed) | C | β 0.027 | 9E-26 | PubMed |
| Platelet count | — | β 0.044 | 8E-25 | PubMed |
| Testicular germ cell tumor | A | OR 1.28 | 9E-25 | PubMed |
| Lung adenocarcinoma | G | OR 1.46 | 2E-22 | PubMed |
| Uterine fibroids | A | β 0.087 | 2E-21 | PubMed |
| Platelet count | A | β 0.034 | 3E-20 | PubMed |
| Testicular germ cell tumor | A | OR 1.29 | 8E-20 | PubMed |
| hematocrit (mean, inv-norm transformed) | C | β 0.023 | 2E-19 | PubMed |
| lymphocyte (fraction, maximum, inv-norm transformed) | C | β 0.025 | 2E-19 | PubMed |
| Interstitial lung disease | A | OR 1.37 | 2E-19 | PubMed |
Sources
- dbSNP: rs2736100 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies