Gene entry
AQP2
aquaporin 2
- Chromosome
- 12
- Cytoband
- 12q13.12
- Variants (rsID)
- 16
AQP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.12). Its official name is “aquaporin 2”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs10875989Benignsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal
- rs296766Benignsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal
- rs3741559Benignsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal|Nephrogenic diabetes insipidus
- rs77904078Benignsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal
- rs193922494Likely pathogenicsingle nucleotide variantNephrogenic diabetes insipidus
- rs193922495Likely pathogenicsingle nucleotide variantNephrogenic diabetes insipidus
- rs104894326Pathogenicsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal|Nephrogenic diabetes insipidus
- rs104894328Pathogenicsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal|Nephrogenic diabetes insipidus
- rs104894334Pathogenicsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal|Nephrogenic diabetes insipidus
- rs104894338Pathogenicsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal
- rs28931580Pathogenicsingle nucleotide variantDiabetes insipidus, nephrogenic, autosomal
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.