Genetic variant

rs1926447

rs1926447 is a single-letter difference in human DNA, on chromosome 13. 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 rs1926447 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Thrombin-activatable fibrinolysis inhibitor Thr325Ile polymorphism and plasma level in breast cancer: A pilot study

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 rs1926447, 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
rs1926447
Position
chr13:46055809

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Serum levels of protein ALPI A OR 0.52 1E-155 PubMed
MAP kinase-activated protein kinase 3 levels A OR 1.1 2E-145 PubMed
Serum levels of protein TOR1AIP1 A OR 0.44 3E-96 PubMed
Serum levels of protein RAET1E A OR 0.41 3E-92 PubMed
MAP kinase-activated protein kinase 3 levels — OR 0.66 3E-88 PubMed
Serum levels of protein CRLF2 A OR 0.36 6E-60 PubMed
NKG2D ligand 4 levels (RAET1E.7800.85.3) G OR 0.43 5E-58 PubMed
CBPB2 protein level (protein group normalized intensity) A OR 0.51 3E-45 PubMed
Succinate-semialdehyde dehydrogenase, mitochondrial level in Chronic kidney disease with hypertension and no diabetes (17792_158) G OR 1.06 3E-41 PubMed
Serine/threonine-protein kinase Chk1 protein levels (SomaScan ID:13634-209) G OR 1.13 3E-32 PubMed
Trimeric intracellular cation channel type B protein levels (SomaScan ID:16593-3) G OR 1.11 1E-30 PubMed
Serum levels of protein TOM1L1 A OR 0.23 6E-30 PubMed
MAP kinase-activated protein kinase 3 level in Chronic kidney disease with hypertension and no diabetes (3822_54) G OR 0.94 7E-30 PubMed
Pirin level in Chronic kidney disease with hypertension and no diabetes (13634_209) G OR 0.89 2E-26 PubMed
Protein quantitative trait loci — — 3E-24 PubMed
CD164 sialomucin-like 2 protein protein levels (SomaScan ID:19145-4) G OR 0.89 8E-18 PubMed
UPF0488 protein C8orf33 levels (C8orf33.9613.16.3) G OR 0.22 3E-16 PubMed
Serum levels of protein MIF A OR 0.15 2E-13 PubMed
Serum levels of protein IFNA10 A OR 0.16 8E-13 PubMed
Macrophage Migration Inhibitory Factor levels A OR 0.35 1E-12 PubMed

Sources