rs183130 a variant in the CETP gene

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 rs183130 is the catalogue number of one of them, in the CETP gene. Which letters you carry there — one copy from each parent — is your genotype.

CETP (cholesteryl ester transfer protein): The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Gene description from NCBI Gene

The (C) allele of rs183130 was associated with risk for lower high-density lipoprotein (HDL) cholest...

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

• High density lipoprotein cholesterol level quantitative trait locus 10

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?

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 related to CETP

• Hdl Cholesterol
• Total Cholesterol

CETP variants affect HDL cholesterol levels. Higher HDL is generally protective.

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

rs183130

Gene

CETP

Position (GRCh38)

chr16:56957450

Variant type

snv

Consequence

intergenic variant

ClinVar classification

association

Genome-wide association studies (20)

How common the less frequent letter is

1kG AFR

26.6%

1kG ALL

26.8%

1kG AMR

69.7%

1kG EAS

17.5%

1kG EUR

70.7%

1kG SAS

31.9%

Sources

• dbSNP: rs183130 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: CETP
• Ensembl: CETP
• GWAS Catalog — association studies

Related

Other variants in CETP

• rs201234837
• rs780627434
• rs2142001776
• rs753876598
• rs5887
• rs142750310
• rs2543643952
• rs767196975
• rs575020601
• rs2056091646

• The CETP gene
• SNP explorer
• Gene directory
• Health conditions