Variant (rsID / SNP)

rs117409545

rs117409545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,174,060. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNJ2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:68174060
Cytoband: 17q24.3
HGVS: NM_000891.3(KCNJ2):c.*1596A>C
Allele change: Silent

Associated conditions / phenotypes

Andersen Tawil syndrome|Short QT syndrome type 3|Atrial fibrillation, familial, 9

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.