Genetic variant
rs10501320
rs10501320 is a single-letter difference in human DNA, on chromosome 11. 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 rs10501320 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan ...
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 rs10501320, 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
- rs10501320
- Position
- chr11:47272248
Genome-wide association studies (14)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Proinsulin levels | G | — | 1E-88 | PubMed |
| Fasting blood glucose | C | β 0.037 | 3E-40 | PubMed |
| Glucose levels (UKB data field 30740) | C | β 0.031 | 9E-38 | PubMed |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | C | β 0.024 | 8E-33 | PubMed |
| Random glucose levels | C | β 0.004 | 1E-30 | PubMed |
| Random glucose levels | C | β 0.004 | 1E-30 | PubMed |
| Fasting glucose | C | β 0.022 | 1E-29 | PubMed |
| Hemoglobin A1c levels | C | β 0.027 | 6E-25 | PubMed |
| Glucose levels | C | β 0.02 | 1E-17 | PubMed |
| Alzheimer's disease or fasting glucose levels (pleiotropy) | — | — | 3E-16 | PubMed |
| Suffering from nerves | C | OR 6.85 | 7E-12 | PubMed |
| Worry | C | β 0.018 | 3E-11 | PubMed |
| Childhood body mass index | G | β 0.015 | 3E-10 | PubMed |
| Feeling nervous | C | OR 6.11 | 1E-9 | PubMed |
Sources
- dbSNP: rs10501320 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies