Standard

Liprin-alpha-1 levels

SHANK2 · rs55678639

What the study found

Who was studied 10,708 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.098 higher (95% confidence interval 0.071-0.125); p = 3 × 10−13.

How common The A allele had a frequency of about 65% in the people studied.

Where it sits Chromosome 11, band 11q13.3 — in the 3′ untranslated region of SHANK2.

What ClinVar records

Classification Likely benign; criteria provided, single submitter (1 of 4 stars, 1 submitter). ClinVar record 305889 NM_012309.5(SHANK2):c.*2583T>C

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/A Two copies of the version the research linked to Liprin-alpha-1 levels. 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 Liprin-alpha-1 levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Liprin-alpha-1 levels. This is the starting point the study compared everyone against.
Source

Questions about rs55678639

What is rs55678639?

rs55678639 is a single position in the genome, in or near the SHANK2 gene. Published research associates it with liprin-alpha-1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs55678639 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 rs55678639 come from?

GWAS Catalog, Science (New York, N.Y.) 2021, PMID:34648354. 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.

Liprin-alpha-1 levels (rs55678639). MyGeneLog™. https://www.mygenelog.com/variants/rs55678639

← See all variants