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T1 FreeSurfer aseg Brain-Stem

EIF2AK1 · rs2640

What the study found

Who was studied 7,058 Chinese Han ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0852 higher (95% confidence interval 0.057-0.113); p = 3 × 10−9.

Where it sits Chromosome 7, band 7p22.1 — a missense change in EIF2AK1.

What ClinVar records

Classification Benign for Acute myeloid leukemia, Nonpapillary renal cell carcinoma, Adrenocortical carcinoma, hereditary, Familial cancer of breast, Malignant lymphoma, large B-cell, diffuse and 4 more; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2026-02-01. ClinVar record 2027206 NM_014413.4(EIF2AK1):c.1673A>G (p.Lys558Arg)

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

C/C Two copies of the version the research linked to T1 FreeSurfer aseg Brain-Stem. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to T1 FreeSurfer aseg Brain-Stem. That is a smaller link than two copies.
T/T No copy of the version the research linked to T1 FreeSurfer aseg Brain-Stem. This is the starting point the study compared everyone against.
Source

Questions about rs2640

What is rs2640?

rs2640 is a single position in the genome, in or near the EIF2AK1 gene. Published research associates it with t1 freesurfer aseg brain-stem. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2640 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 rs2640 come from?

GWAS Catalog, Nature genetics 2024, PMID:38811844. 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.

T1 FreeSurfer aseg Brain-Stem (rs2640). MyGeneLog™. https://www.mygenelog.com/variants/rs2640

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