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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 24,493 European ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.015 mm2 higher (95% confidence interval 0.0091-0.0209); p = 3 × 10−9.
How common The G allele had a frequency of about 29% in the people studied.
Where it sits Chromosome 16, band 16q12.1 — between genes, 122.4 kb from HNRNPA1L3.
What each result means
C/CNo copy of the version the research linked to Optic cup area. This is the starting point the study compared everyone against.
C/GOne copy of the version the research linked to Optic cup area. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Optic cup area. That is the strongest link of the three results. A link in a study is not a diagnosis.
Communications biology · 2019 · PMID 31798171 · open access
Questions about rs1420993
What is rs1420993?
rs1420993 is a single position in the genome, in or near the SALL1 gene. Published research associates it with optic cup area. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs1420993 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 rs1420993 come from?
GWAS Catalog, Communications biology 2019, PMID:31798171. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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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.
Optic cup area (rs1420993). MyGeneLog™. https://www.mygenelog.com/variants/rs1420993