Genetic variant
rs1421085 a variant in the FTO gene
rs1421085 is a single-letter difference in the FTO gene, on chromosome 16. ClinVar, the public archive of variant interpretations, lists it as risk factor: linked to a somewhat higher chance of a condition, not a cause on its own. It has been reported in connection with Obesity (bmiq14) and Susceptibility to. 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 rs1421085 is the catalogue number of one of them, in the FTO gene. Which letters you carry there — one copy from each parent — is your genotype.
FTO (FTO alpha-ketoglutarate dependent dioxygenase): This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation.
Gene description from NCBI Gene
rs1421085 is a SNP located in the first intron of the FTO (fat mass and obesity associated) gene on ...
From SNPedia
Why might it matter?
ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Obesity (bmiq14)
- Susceptibility to
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
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 rs1421085, 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
- rs1421085
- Gene
- FTO
- Position (GRCh38)
- chr16:53767041
- Variant type
- snv
- Consequence
- intron variant
- ClinVar classification
- risk factor
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Body mass index | T | β 0.08 | 4E-431 | PubMed |
| Leg lean mass | T | β 0.078 | 1E-338 | PubMed |
| Body mass index or hip osteoarthritis (pleiotropy) | T | — | 1E-324 | PubMed |
| What is your weight? (pounds, inv-normal transformed) | T | OR 0.12 | 1E-323 | PubMed |
| Body mass index (BMI, maximum, inv-normal transformed) | T | OR 0.15 | 1E-323 | PubMed |
| Body mass index (BMI, mean, inv-normal transformed) | T | OR 0.14 | 1E-323 | PubMed |
| Body mass index | — | — | 1E-300 | PubMed |
| Weight (mean, inv-normal transformed) | T | OR 0.14 | 2E-300 | PubMed |
| Obesity (PheCode 278.1) | T | OR 0.14 | 6E-291 | PubMed |
| Body mass index (BMI, minimum, inv-normal transformed) | T | OR 0.12 | 2E-277 | PubMed |
| Body mass index (UKB data field 21001) | C | β 0.065 | 2E-260 | PubMed |
| Overweight, obesity and other hyperalimentation (PheCode 278) | T | OR 0.13 | 4E-246 | PubMed |
| Body size at age 10 | T | β 0.047 | 6E-242 | PubMed |
| Weight | C | β 0.059 | 3E-241 | PubMed |
| Weight (UKB data field 21002) | C | β 0.054 | 1E-239 | PubMed |
| Type 2 diabetes (PheCode 250.2) | T | OR 0.12 | 4E-211 | PubMed |
| Diabetes mellitus (PheCode 250) | T | OR 0.12 | 8E-207 | PubMed |
| Basal metabolic rate (UKB data field 23105) | C | β 0.036 | 2E-203 | PubMed |
| Impedance of whole body (UKB data field 23106) | C | β 0.043 | 6E-195 | PubMed |
| Hemoglobin A1c (HbA1c, maximum, inv-norm transformed) | T | β 0.085 | 8E-195 | PubMed |
ClinVar submissions (4)
How common the less frequent letter is
- 1kG AFR
- 94.4%
- 1kG ALL
- 77.1%
- 1kG AMR
- 76.1%
- 1kG EAS
- 16.9%
- 1kG EUR
- 43.2%
- 1kG SAS
- 30.7%
Sources
- dbSNP: rs1421085 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: FTO
- Ensembl: FTO
- GWAS Catalog — association studies