Genetic variant

rs12979860 a variant in the IFNL4 gene

rs12979860 is a single-letter difference in the IFNL4 gene, on chromosome 19. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and and telaprevir response - Efficacy, among others. 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 rs12979860 is the catalogue number of one of them, in the IFNL4 gene. Which letters you carry there — one copy from each parent — is your genotype.

rs12979860 is a SNP near the IL28B gene, encoding interferon-lambda-3 (IFN-lambda-3). Several studie...

From SNPedia

Why might it matter?

ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. 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 rs12979860, 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
rs12979860
Gene
IFNL4
Position (GRCh38)
chr19:39248146
Variant type
snv
Consequence
intron variant
ClinVar classification
drug response

Genome-wide association studies (3)

TraitRisk alleleOR / betaP-valueStudy
Chronic hepatitis C infection — OR 2.2 2E-30 PubMed
Response to hepatitis C treatment C OR 2 1E-28 PubMed
Ovarian cyst T β 0.085 2E-8 PubMed

How common the less frequent letter is

gnomAD ALL
28.2%
1kG AFR
33.1%
1kG ALL
64.4%
1kG AMR
39.9%
1kG EAS
92%
1kG EUR
69.1%
1kG SAS
23.3%

Sources