Genetic variant

rs116843064 a variant in the ANGPTL4 gene

rs116843064 is a single-letter difference in the ANGPTL4 gene, on chromosome 19. 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 Plasma triglyceride level quantitative trait locus. 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 rs116843064 is the catalogue number of one of them, in the ANGPTL4 gene. Which letters you carry there — one copy from each parent — is your genotype.

ANGPTL4 (angiopoietin like 4): This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity.

Gene description from NCBI Gene

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 rs116843064, 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
rs116843064
Gene
ANGPTL4
Position
chr19:8364439
ClinVar classification
association

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Triglyceride levels — — 2E-493 PubMed
High density lipoprotein cholesterol levels — — 4E-396 PubMed
Triglyceride levels A OR 0.24 2E-327 PubMed
high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) G OR 0.47 1E-323 PubMed
high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) G OR 0.46 1E-323 PubMed
high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) G OR 0.42 7E-285 PubMed
triglyceride (mean, inv-norm transformed) G OR 0.41 2E-274 PubMed
Triglyceride levels A OR 0.31 1E-254 PubMed
High density lipoprotein cholesterol levels A OR 0.21 4E-241 PubMed
High-density lipoprotein levels A OR 0.31 3E-238 PubMed
triglyceride (maximum, inv-norm transformed) G OR 0.36 1E-229 PubMed
Triglyceride levels G OR 0.23 3E-215 PubMed
triglyceride (minimum, inv-norm transformed) G OR 0.35 3E-211 PubMed
Triglyceride levels (UKB data field 30870) A OR 0.2 5E-205 PubMed
HDL cholesterol levels G OR 0.21 6E-195 PubMed
Triglyceride levels in non-type 2 diabetes — — 8E-192 PubMed
Triglyceride to HDL cholesterol ratio A OR 0.25 1E-189 PubMed
Haematocrit percentage (UKB data field 30030) A OR 0.18 4E-178 PubMed
Triglycerides A OR 0.23 2E-163 PubMed
Triglyceride levels A OR 0.24 4E-161 PubMed

Sources