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Keratoconus

ATP1B1 · rs1200108

Where this position leads

Condition: Keratoconus

rs1200108 Condition: Keratoconus Keratoconus Condition rs1200108 rs1200108 ATP1B1

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 A allele shifted the measure 0.163 lower (95% confidence interval 0.11-0.21); p = 5 × 10−10.

Where it sits Chromosome 1, band 1q24.2 — in an intron of LINC00970.

What each result means

A/A 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.
A/G One copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
G/G No copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
Source

Questions about rs1200108

What is rs1200108?

rs1200108 is a single position in the genome, in or near the ATP1B1 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 rs1200108 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 rs1200108 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 rs1200108 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 (rs1200108). MyGeneLog™. https://www.mygenelog.com/variants/rs1200108

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