Gene Knowledge Graph
UTC
Standard

Carbonic anhydrase 12 levels

near APH1B · rs16946801

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 2,721 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.812 lower (95% confidence interval 0.77-0.86); p = 2 × 10−234.

How common The C allele had a frequency of about 39% in the people studied.

Where it sits Chromosome 15, band 15q22.2 — between genes, 3.8 kb from APH1B.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Carbonic anhydrase 12 levels compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Carbonic anhydrase 12 levels.
T/T Published research associates this genotype with typical/baseline likelihood of Carbonic anhydrase 12 levels — no copies of the reported risk allele.
Source
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease
Western D, Timsina J, Wang L, Wang C, Yang C, Phillips B, Wang Y, Liu M, Ali M, Beric A, Gorijala P, Kohlfeld P
and 28 more — show all
Budde J, Levey AI, Morris JC, Perrin RJ, Ruiz A, Marquié M, Boada M, de Rojas I, Rutledge J, Oh H, Wilson EN, Le Guen Y, Reus LM, Tijms B, Visser PJ, van der Lee SJ, Pijnenburg YAL, Teunissen CE, Del Campo Milan M, Alvarez I, Aguilar M, Greicius MD, Pastor P, Pulford DJ, Ibanez L, Wyss-Coray T, Sung YJ, Cruchaga C
Dominantly Inherited Alzheimer Network (DIAN) · Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Nature genetics · 2024 · PMID 39528825

Questions about rs16946801

What is rs16946801?

rs16946801 is a single position in the genome, in or near the near APH1B gene. Published research associates it with carbonic anhydrase 12 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs16946801 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 rs16946801 come from?

GWAS Catalog, Nature genetics 2024, PMID:39528825. 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.

Carbonic anhydrase 12 levels (rs16946801). MyGeneLog™. https://www.mygenelog.com/variants/rs16946801

← See all variants