Variant (rsID / SNP)

rs117189807

rs117189807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ1. Location: chromosome 11, position 128,708,423. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNJ1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:128708423
Cytoband: 11q24.3
HGVS: NM_153766.3(KCNJ1):c.*597C>T
Allele change: Silent

Associated conditions / phenotypes

Antenatal Bartter syndrome

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.