AGER · rs2070600
Where this position leads
Condition: Pulmonary Function (Lung Capacity)
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
What the study found
Who was studied 20,890 European ancestry individuals; replicated in 16,178 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 1 % higher; p = 3 × 10−14.
How common The T allele had a frequency of about 4% in the people studied.
Where it sits Chromosome 6, band 6p21.32 — a missense change in AGER.
What ClinVar records
Classification
Uncertain significance for COPD, severe early onset, Nonpapillary renal cell carcinoma, Ovarian cancer, Uterine corpus endometrial carcinoma, Chronic lymphocytic leukemia/small lymphocytic lymphoma and 6 more; no assertion criteria provided (0 of 4 stars, 2 submitters), last evaluated 2023-08-10.
ClinVar record 2582841 NM_001136.5(AGER):c.244G>A (p.Gly82Ser)
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 people read about alongside this
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
rs2070600 is a single position in the genome, in or near the AGER gene. Published research associates it with pulmonary function. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Pulmonary Function (Lung Capacity). The research behind each link, and its sources, are set out on that condition page.
Subjects that appear in the title or abstract of the same papers as this rsID include blood sugar and insulin (13 papers), heart and circulation (8 papers), cholesterol and blood fats (4 papers), kidneys (3 papers), bones and fractures (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
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.
GWAS Catalog, Nat Genet 2009, PMID:20010835. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Pulmonary function (rs2070600). MyGeneLog™. https://www.mygenelog.com/variants/rs2070600