Genetic variant

rs1800588 a variant in the LIPC gene

rs1800588 is a single-letter difference in the LIPC gene, on chromosome 15. 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 High density lipoprotein cholesterol level quantitative trait locus 12. 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 rs1800588 is the catalogue number of one of them, in the LIPC gene. Which letters you carry there — one copy from each parent — is your genotype.

LIPC (lipase C, hepatic type): Enables phospholipase A1 activity and triacylglycerol lipase activity. Involved in several processes, including cholesterol homeostasis; plasma lipoprotein particle remodeling; and triglyceride catabolic process. Located in extracellular space.

Gene description from NCBI Gene

rs1800588, also known as the -514C/T polymorphism of the LIPC gene, may influence the levels of the ...

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 rs1800588, 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
rs1800588
Gene
LIPC
Position (GRCh38)
chr15:58431475
Variant type
snv
Consequence
intergenic variant
ClinVar classification
association

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Free Cholesterol to Total Lipids in Small HDL percentage T OR 0.27 3E-1443 PubMed
Phospholipids to Total Lipids in Large LDL percentage T OR 0.23 7E-1012 PubMed
Free Cholesterol to Total Lipids in Small HDL percentage T OR 0.23 7E-803 PubMed
HDL cholesterol levels C OR 0.12 2E-566 PubMed
Triglyceride levels in HDL T OR 0.23 3E-544 PubMed
Phospholipids to Total Lipids in Large LDL percentage T OR 0.17 2E-463 PubMed
Phosphatidylcholine and other choline levels T OR 0.17 1E-300 PubMed
Total phosphoglycerides levels T OR 0.17 5E-281 PubMed
Total cholines levels T OR 0.16 2E-262 PubMed
Total cholesterol in HDL3 T OR 0.16 6E-256 PubMed
Total fatty acid levels T — 4E-241 PubMed
Saturated fatty acids levels T — 1E-229 PubMed
Total fatty acid levels T — 2E-209 PubMed
Linoleic acid levels T — 2E-200 PubMed
Cholesterol in large HDL (UKB data field 23561) T OR 0.15 7E-198 PubMed
Saturated fatty acids levels T — 6E-197 PubMed
High density lipoprotein cholesterol levels — OR 0.14 3E-191 PubMed
Total fatty acids T OR 0.13 5E-170 PubMed
Saturated fatty acids T OR 0.13 4E-167 PubMed
Phospholipids to Total Lipids in Large HDL percentage T β 0.092 3E-165 PubMed

How common the less frequent letter is

gnomAD ALL
72.8%
1kG AFR
44%
1kG ALL
38.6%
1kG AMR
42.2%
1kG EAS
60%
1kG EUR
20.9%
1kG SAS
70.4%

Sources