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Early age-related macular degeneration

C2 · rs547154

Where this position leads

Condition: Age-Related Macular Degeneration

rs547154 Condition: Age-Related Macular Degeneration Age-Related Macular Degeneration Condition rs547154 rs547154 C2

What the study found

Who was studied 14,034 European ancestry cases, 91,214 European ancestry controls.

The effect Each copy of the G allele carried 1.24 times the odds of Early age-related macular degeneration (95% confidence interval 1.19-1.29); p = 1 × 10−18.

How common The G allele had a frequency of about 91% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — in an intron of C2.

What ClinVar records

Classification protective for Age related macular degeneration 14; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2015-05-18. ClinVar record 12131 NM_000063.6(C2):c.1360+62G>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

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

Questions about rs547154

What is rs547154?

rs547154 is a single position in the genome, in or near the C2 gene. Published research associates it with early 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 rs547154 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 rs547154 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 rs547154 come from?

GWAS Catalog, BMC medical genomics 2020, PMID:32843070. 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.

Early age-related macular degeneration (rs547154). MyGeneLog™. https://www.mygenelog.com/variants/rs547154

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