AQP2 · rs12372344
Where this position leads
Condition: Blood Pressure
What the study found
Who was studied at least 757,601 European ancestry individuals (MTAG boosted by 455,258 Alzheimer's disease samples).
The effect Each copy of the C allele shifted the measure 0.0136 higher (95% confidence interval 0.0094-0.0177); p = 2 × 10−10.
Where it sits Chromosome 12, band 12q13.12 — in an intron of AQP2.
What ClinVar records
Classification
Benign for Diabetes insipidus, nephrogenic, autosomal; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2021-12-05.
ClinVar record 1228152 NM_000486.6(AQP2):c.526-54T>C
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.
rs12372344 is a single position in the genome, in or near the AQP2 gene. Published research associates it with diastolic blood pressure (mtag). 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 Blood Pressure. The research behind each link, and its sources, are set out on that condition page.
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, Nature communications 2024, PMID:39537608. 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.
Diastolic blood pressure (MTAG) (rs12372344). MyGeneLog™. https://www.mygenelog.com/variants/rs12372344