Genetic variant
rs5471 a variant in the HP gene
rs5471 is a single-letter difference in the HP gene, on chromosome 16. It has been reported in connection with Anhaptoglobinemia. 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 rs5471 is the catalogue number of one of them, in the HP gene. Which letters you carry there — one copy from each parent — is your genotype.
HP (haptoglobin): This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin.
Gene description from NCBI Gene
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in gambian children
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.
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 rs5471, 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
- rs5471
- Gene
- HP
- Position
- chr16:72054562
- ClinVar classification
- Affects
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Total cholesterol levels (MTAG) | C | OR 0.12 | 6E-102 | PubMed |
| Total cholesterol levels | C | OR 0.18 | 4E-97 | PubMed |
| total cholesterol (mean, inv-norm transformed) | A | OR 0.15 | 2E-89 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | A | OR 0.14 | 1E-86 | PubMed |
| Low density lipoprotein cholesterol levels | C | OR 0.16 | 1E-79 | PubMed |
| total cholesterol (mean, inv-norm transformed) | A | OR 0.14 | 8E-75 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | A | OR 0.14 | 7E-74 | PubMed |
| Total cholesterol levels | A | OR 0.2 | 1E-70 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | A | OR 0.13 | 1E-66 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | A | OR 0.12 | 2E-65 | PubMed |
| total cholesterol (minimum, inv-norm transformed) | A | OR 0.12 | 7E-62 | PubMed |
| Haptoglobin level in Chronic kidney disease with hypertension and no diabetes (3054_3) | C | OR 1.19 | 6E-60 | PubMed |
| Apolipoprotein L1 levels | — | OR 0.72 | 1E-58 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | A | OR 0.12 | 1E-57 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | A | OR 0.12 | 4E-57 | PubMed |
| LDL cholesterol | A | OR 0.18 | 5E-57 | PubMed |
| Haptoglobin isoform 2 level in Chronic kidney disease with hypertension and no diabetes (7905_30) | C | OR 1.17 | 2E-56 | PubMed |
| total cholesterol (minimum, inv-norm transformed) | A | OR 0.12 | 9E-54 | PubMed |
| High-density lipoprotein levels (MTAG) | C | β 0.058 | 3E-53 | PubMed |
| low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed) | A | β 0.099 | 9E-44 | PubMed |
Sources
- dbSNP: rs5471 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: HP
- Ensembl: HP
- GWAS Catalog — association studies