Genetic variant

rs7385804

rs7385804 is a single-letter difference in human DNA, on chromosome 7. 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 rs7385804 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency ane...

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 rs7385804, 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
rs7385804
Position
chr7:100638347

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Red blood cell count — — 1E-300 PubMed
mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) C β 0.081 4E-198 PubMed
red cell diameter width (RDW, minimum, inv-norm transformed) C β 0.08 7E-187 PubMed
Mean corpuscular volume A β 0.063 4E-182 PubMed
mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) C β 0.076 4E-180 PubMed
red cell diameter width (RDW, mean, inv-norm transformed) C β 0.075 9E-164 PubMed
Mean corpuscular hemoglobin concentration A β 0.048 1E-117 PubMed
Mean corpuscular hemoglobin A β 0.084 3E-116 PubMed
mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) C β 0.059 9E-110 PubMed
red cell diameter width (RDW, maximum, inv-norm transformed) C β 0.058 2E-101 PubMed
Red blood cell count A β 0.074 4E-90 PubMed
Mean corpuscular volume A β 0.071 9E-85 PubMed
Mean corpuscular hemoglobin concentration A β 0.041 4E-78 PubMed
Procollagen C-endopeptidase enhancer 1 levels A OR 0.23 6E-64 PubMed
Collagen triple helix repeat-containing protein 1 levels A OR 0.22 4E-60 PubMed
Iron status biomarkers (iron levels) C β 0.057 9E-43 PubMed
iron (maximum, inv-norm transformed) C β 0.058 5E-40 PubMed
Iron status biomarkers (transferrin saturation) C β 0.062 3E-39 PubMed
iron (mean, inv-norm transformed) C β 0.058 4E-39 PubMed
Mean corpuscular hemoglobin A OR 0.17 2E-27 PubMed

Sources