Genetic variant
rs507666 a variant in the ABO gene
rs507666 is a single-letter difference in the ABO gene, on chromosome 9. 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 ABO blood group system. 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 rs507666 is the catalogue number of one of them, in the ABO gene. Which letters you carry there — one copy from each parent — is your genotype.
ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase): This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual.
Gene description from NCBI Gene
ABO blood group rs507666, at the ABO (9q34.2) locus is highly correlated with sICAM-1 concentrations...
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 rs507666, 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
- rs507666
- Gene
- ABO
- Position
- chr9:133273983
- ClinVar classification
- association
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| CD209/SELE protein level ratio | — | OR 1.13 | 7E-4604 | PubMed |
| PRCP/SELE protein level ratio | — | OR 1.07 | 1E-3911 | PubMed |
| ITGA5/SELE protein level ratio | — | OR 1.03 | 3E-3709 | PubMed |
| Serum alkaline phosphatase levels | A | OR 0.34 | 5E-2658 | PubMed |
| CD209/CLEC14A protein level ratio | — | OR 0.87 | 5E-2460 | PubMed |
| E-selectin levels | A | OR 0.88 | 4E-2436 | PubMed |
| LGALS8/SERPINB6 protein level ratio | — | OR 0.82 | 2E-2062 | PubMed |
| LGALS8/RWDD1 protein level ratio | — | OR 0.76 | 1E-1792 | PubMed |
| LGALS8/TXNDC5 protein level ratio | — | OR 0.76 | 2E-1767 | PubMed |
| E-selectin levels | A | OR 1.09 | 9E-1540 | PubMed |
| CLEC4G/KDR protein level ratio | — | OR 0.65 | 2E-1249 | PubMed |
| LBR/LGALS8 protein level ratio | — | OR 0.59 | 6E-1033 | PubMed |
| CDH17/GALNT3 protein level ratio | — | OR 0.6 | 4E-1018 | PubMed |
| LGALS8/VWF protein level ratio | — | OR 0.57 | 8E-934 | PubMed |
| LGALS8/SOD2 protein level ratio | — | OR 0.54 | 8E-866 | PubMed |
| CDH17/DSG2 protein level ratio | — | OR 0.55 | 1E-847 | PubMed |
| CDH17/ITGB7 protein level ratio | — | OR 0.54 | 1E-820 | PubMed |
| LGALS1/LGALS8 protein level ratio | — | OR 0.52 | 5E-793 | PubMed |
| CLEC4G/KEL protein level ratio | — | OR 0.53 | 6E-770 | PubMed |
| GP6/LGALS8 protein level ratio | — | OR 0.52 | 4E-762 | PubMed |
Sources
- dbSNP: rs507666 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: ABO
- Ensembl: ABO
- GWAS Catalog — association studies