3 432227124221Reads by AI crawlersClaude2ChatGPT2Google · Gemini0Perplexity2Meta AI7Microsoft · Copilot1Amazon2Apple4China (ByteDance, Huawei, Baidu…)2ByteDance (Doubao)2Others21Total43Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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 0.662 higher (95% confidence interval 0.54-0.79); p = 3 × 10−25.
Where it sits Chromosome 6, band 6q13 — a missense change in COL12A1.
What ClinVar records
ClassificationBenign/Likely benign for Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-02-04.
ClinVar record 259344NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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/ATwo 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/TOne copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
Communications biology · 2021 · PMID 33649486 · open access
Questions about rs35523808
What is rs35523808?
rs35523808 is a single position in the genome, in or near the COL12A1 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 rs35523808 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 rs35523808 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 rs35523808 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.
3 432227124221Reads by AI crawlersClaude2ChatGPT2Google · Gemini0Perplexity2Meta AI7Microsoft · Copilot1Amazon2Apple4China (ByteDance, Huawei, Baidu…)2ByteDance (Doubao)2Others21Total43Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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.