Genetic variant
rs78378222
rs78378222 is a single-letter difference in human DNA, on chromosome 17. 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 rs78378222 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 ×
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 rs78378222, 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
- rs78378222
- Position
- chr17:7668434
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Uterine fibroids | T | OR 0.64 | 3E-132 | PubMed |
| Uterine fibroids | T | OR 0.64 | 3E-132 | PubMed |
| ICD10 D25: Leiomyoma of uterus | T | OR 0.55 | 2E-121 | PubMed |
| Height (maximum, inv-normal transformed) | T | OR 0.27 | 5E-105 | PubMed |
| Uterine fibroids | — | — | 1E-102 | PubMed |
| Uterine leiomyomata | T | OR 0.51 | 9E-86 | PubMed |
| Uterine fibroids | G | OR 0.82 | 4E-63 | PubMed |
| Weight (mean, inv-normal transformed) | T | OR 0.21 | 7E-60 | PubMed |
| Appendicular lean mass | T | OR 0.14 | 5E-56 | PubMed |
| Weight (maximum, inv-normal transformed) | T | OR 0.2 | 6E-56 | PubMed |
| Sex hormone-binding globulin levels and heel estimated bone mineral density | — | — | 4E-54 | PubMed |
| Weight (minimum, inv-normal transformed) | T | OR 0.19 | 2E-52 | PubMed |
| Whole body water mass (UKB data field 23102) | G | β 0.071 | 7E-45 | PubMed |
| Basal cell carcinoma (PheCode 172.21) | T | OR 0.45 | 5E-44 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | T | OR 0.18 | 6E-44 | PubMed |
| diastolic blood pressure (DBP, mean, inv-normal transformed) | T | OR 0.15 | 5E-42 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | T | OR 0.17 | 5E-42 | PubMed |
| mean corpuscular volume (MCV, minimum, inv-norm transformed) | T | OR 0.17 | 1E-41 | PubMed |
| Basal metabolic rate (UKB data field 23105) | G | β 0.07 | 1E-39 | PubMed |
| Pulse pressure | G | OR 1.06 | 6E-39 | PubMed |
Sources
- dbSNP: rs78378222 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies