Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

KCNJ1

potassium inwardly rectifying channel subfamily J member 1

Chromosome
11
Cytoband
11q24.3
Variants (rsID)
19

KCNJ1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q24.3). Its official name is “potassium inwardly rectifying channel subfamily J member 1”. The reference table lists 19 variants (rsID) for this gene.

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs59172778Benignsingle nucleotide variantBartter disease type 2
  • rs675388Benignsingle nucleotide variantAntenatal Bartter syndrome
  • rs104894245Pathogenicsingle nucleotide variantBartter disease type 2
  • rs117189807Uncertain significancesingle nucleotide variantAntenatal Bartter syndrome

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.