Genetic variant

rs6449213 a variant in the SLC2A9 gene

rs6449213 is a single-letter difference in the SLC2A9 gene, on chromosome 4. ClinVar, the public archive of variant interpretations, lists it as association: seen more often in people with a condition, which is not the same as causing it. It has been reported in connection with Uric acid concentration, serum, quantitative trait locus 2. Carrying it does not, on its own, mean you have or will develop any condition.

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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 rs6449213 is the catalogue number of one of them, in the SLC2A9 gene. Which letters you carry there — one copy from each parent — is your genotype.

SLC2A9 (solute carrier family 2 member 9): This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Gene description from NCBI Gene

This is basically a surrogate for rs7442295, and thus associated with higher serum urate levels. [O...

From SNPedia

Why might it matter?

ClinVar records this variant as association, meaning seen more often in people with a condition, which is not the same as causing it. 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

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 rs6449213, if your test read this position.

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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.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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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
rs6449213
Gene
SLC2A9
Position (GRCh38)
chr4:9992590
Variant type
snv
Consequence
intron variant
ClinVar classification
association

Genome-wide association studies (2)

TraitRisk alleleOR / betaP-valueStudy
Urate levels T — 2E-17 PubMed
Uric acid levels — — 2E-7 PubMed

How common the less frequent letter is

1kG AFR
13.1%
1kG ALL
85.8%
1kG AMR
26.4%
1kG EAS
2.5%
1kG EUR
17.7%
1kG SAS
84.3%

Sources