rs12203592 a variant in the IRF4 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 rs12203592 is the catalogue number of one of them, in the IRF4 gene. Which letters you carry there — one copy from each parent — is your genotype.

IRF4 (interferon regulatory factor 4): The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes.

Gene description from NCBI Gene

plos rs12203592 showed the largest allele frequency difference between the Irish individuals and tho...

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

• Skin/hair/eye pigmentation, variation in
• 8

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 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

rs12203592

Gene

IRF4

Position (GRCh38)

chr6:396320

Variant type

snv

Consequence

intron variant

ClinVar classification

Affects

Genome-wide association studies (20)

How common the less frequent letter is

1kG AFR

99.2%

1kG ALL

96.3%

1kG AMR

92.8%

1kG EAS

100%

1kG EUR

88.4%

1kG SAS

0.6%

Sources

• dbSNP: rs12203592 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: IRF4
• Ensembl: IRF4
• GWAS Catalog — association studies

Related

Other variants in IRF4

• rs139858073
• rs745876631
• rs139884486
• rs140099868
• rs144593192
• rs2480826321
• rs2480811054

• The IRF4 gene
• SNP explorer
• Gene directory
• Health conditions