Variant (rsID / SNP)

rs296766

rs296766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AQP2. Location: chromosome 12, position 50,350,953. Clinical significance in the table: Benign.

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Reference-table entries

AQP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:50350953
Cytoband: 12q13.12
HGVS: NM_000486.6(AQP2):c.*1562T>C
Allele change: Silent

Associated conditions / phenotypes

Diabetes insipidus, nephrogenic, autosomal

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.