Sensitive

Pharyngeal disease

NFKB1 · rs4648051

Where this position leads

What the study found

Who was studied 33,157 Finnish ancestry cases, 199,208 Finnish ancestry controls.

The effect Each copy of the G allele carried 0.94 times the odds of Pharyngeal disease (95% confidence interval 0.92-0.96); p = 4 × 10⁻¹¹.

How common The G allele had a frequency of about 32% in the people studied.

Where it sits Chromosome 4, band 4q24 — in an intron of NFKB1.

What ClinVar records

Classification Benign for Sarcoma, Gastric cancer, Cervical cancer; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2021-06-19. ClinVar record 1226742 NM_003998.4(NFKB1):c.1210+268A>G

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version the research linked to Pharyngeal disease. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Pharyngeal disease. That is a smaller link than two copies.

G/G Two copies of the version the research linked to Pharyngeal disease. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation

Saarentaus EC, Karjalainen J, Rämö JT, Kiiskinen T, Havulinna AS, Mehtonen J, Hautakangas H, Ruotsalainen S, Tamlander M, Mars N, Toppila-Salmi S, Pirinen M

and 6 more — show all

Kurki M, Ripatti S, Daly M, Palotie T, Mäkitie A, Palotie A

FINNGEN

Nature communications · 2023 · PMID 36653354 · open access

Questions about rs4648051

What is rs4648051?

rs4648051 is a single position in the genome, in or near the NFKB1 gene. Published research associates it with pharyngeal disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4648051 linked to?

On MyGeneLog this position is linked to Pharyngeal Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs4648051 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs4648051 come from?

GWAS Catalog, Nature communications 2023, PMID:36653354. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Pharyngeal disease (rs4648051). MyGeneLog™. https://www.mygenelog.com/variants/rs4648051

← See all variants