Standard

Keratoconus

SRFBP1 · rs840464

Where this position leads

Condition: Keratoconus

rs840464 Condition: Keratoconus Keratoconus Condition rs840464 rs840464 SRFBP1

What the study found

Who was studied 2,116 European ancestry cases, 24,626 European ancestry controls; replicated in 1, 389 European ancestry cases, 79,727 European ancestry controls, 759 South Asian ancestry cases, 8,009 South Asian ancestry controls, 405 African ancestry cases, 4,185 African ancestry controls.

The effect Each copy of the T allele shifted the measure 0.233 higher (95% confidence interval 0.18-0.28); p = 2 × 10−20.

Where it sits Chromosome 5, band 5q23.1 — between genes, 2.8 kb from SRFBP1.

What each result means

G/G No copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Keratoconus. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs840464

What is rs840464?

rs840464 is a single position in the genome, in or near the SRFBP1 gene. Published research associates it with keratoconus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs840464 linked to?

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

Does having rs840464 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 rs840464 come from?

GWAS Catalog, Commun Biol 2021, PMID:33649486. 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.

Keratoconus (rs840464). MyGeneLog™. https://www.mygenelog.com/variants/rs840464

← See all variants