Genetic variant

rs8176741

rs8176741 is a single-letter difference in human DNA, on chromosome 9. 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 rs8176741 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such...

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 rs8176741, 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?

  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.

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
rs8176741
Position
chr9:133256074

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Plexin-D1 levels A OR 0.86 2E-248 PubMed
DSG2 protein levels A OR 0.36 2E-247 PubMed
mean corpuscular volume (MCV, maximum, inv-norm transformed) G OR 0.17 1E-235 PubMed
Interleukin-3 receptor subunit alpha levels A OR 0.7 1E-176 PubMed
red blood cell count (RBC, maximum, inv-norm transformed) G OR 0.14 3E-175 PubMed
Serum levels of protein ROBO4 A OR 0.92 2E-161 PubMed
red blood cell count (RBC, mean, inv-norm transformed) G OR 0.12 4E-145 PubMed
Serum levels of protein CDH5 A OR 0.86 2E-132 PubMed
Immunoglobulin superfamily containing leucine-rich repeat protein 2 levels A OR 0.62 2E-128 PubMed
Serum levels of protein TIE1 A OR 0.83 7E-120 PubMed
Hemoglobin levels A β 0.071 4E-119 PubMed
von Willebrand factor levels — OR 0.2 9E-115 PubMed
CD109 antigen levels A OR 0.54 1E-92 PubMed
JAM2 protein levels A OR 0.21 1E-85 PubMed
Endoglin levels A OR 0.5 2E-85 PubMed
red blood cell count (RBC, minimum, inv-norm transformed) G β 0.089 5E-80 PubMed
Blood protein levels in cardiovascular risk G OR 0.61 2E-78 PubMed
mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) G β 0.099 3E-78 PubMed
Immunoglobulin superfamily containing leucine-rich repeat protein 2 levels A OR 0.67 4E-64 PubMed
Serum levels of protein IL3RA A OR 0.54 1E-52 PubMed

Sources