0 2022115Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple2China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others15Total20Counted 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 57,290 European ancestry cases, 324,430 European ancestry controls.
The effect
Each copy of the T allele shifted the measure 0.086 higher (95% confidence interval 0.063-0.109); p = 7 × 10−14.
How common The T allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 2, band 2q36.3 — in the 3′ untranslated region of COL4A3.
What ClinVar records
ClassificationBenign for Alport syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-01-13.
ClinVar record 334795NM_000091.5(COL4A3):c.*595A>T
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/ANo copy of the version the research linked to Age-related macular degeneration. This is the starting point the study compared everyone against.
A/TOne copy of the version the research linked to Age-related macular degeneration. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Age-related macular degeneration. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs56123646 is a single position in the genome, in or near the COL4A3 gene. Published research associates it with age-related macular degeneration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs56123646 linked to?
On MyGeneLog this position is linked to Age-Related Macular Degeneration. The research behind each link, and its sources, are set out on that condition page.
Does having rs56123646 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 rs56123646 come from?
GWAS Catalog, Nature genetics 2024, PMID:39623103. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 2022115Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple2China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others15Total20Counted 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.
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