Genetic variant
rs78534766
rs78534766 is a single-letter difference in human DNA, on chromosome 16. 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 rs78534766 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Asp439Glu in ADCY7 doubles risk of ulcerative colitis http://biorxiv.org/content/biorxiv/early/2016/...
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 rs78534766, 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
- rs78534766
- Position
- chr16:50301163
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hypothyroidism | A | OR 0.3 | 2E-42 | PubMed |
| Hypothyroidism | A | OR 0.29 | 9E-42 | PubMed |
| Hypothyroidism | A | OR 0.31 | 3E-26 | PubMed |
| Eosinophil percentage of white cells | A | OR 0.12 | 9E-17 | PubMed |
| Hypothyroidism | — | — | 1E-16 | PubMed |
| Hypothyroidism | A | OR 0.38 | 8E-15 | PubMed |
| Ulcerative colitis | — | OR 2.16 | 1E-14 | PubMed |
| Autoimmune thyroid disease | A | OR 1.46 | 1E-14 | PubMed |
| Eosinophill percentage (UKB data field 30210) | A | β 0.094 | 2E-14 | PubMed |
| Eosinophil count | A | β 0.098 | 4E-14 | PubMed |
| Ulcerative colitis | — | — | 3E-13 | PubMed |
| Autoimmune traits | — | — | 5E-13 | PubMed |
| Inflammatory bowel disease | — | — | 2E-12 | PubMed |
| Eosinophil count | A | β 0.097 | 1E-11 | PubMed |
| Eosinophil count | A | — | 1E-11 | PubMed |
| Treatment or medication use - levothyroxine sodium (UKB data field 20003_1141191044) | A | OR 0.45 | 5E-10 | PubMed |
| Hypothyroidism | A | OR 0.38 | 1E-9 | PubMed |
| Lymphocytic thyroiditis | A | OR 0.5 | 1E-8 | PubMed |
| Lymphocytic thyroiditis | A | OR 0.49 | 2E-8 | PubMed |
| Graves' disease | A | OR 0.43 | 3E-8 | PubMed |
Sources
- dbSNP: rs78534766 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies