Variant (rsID / SNP)

rs141811489

rs141811489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,732,618. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKHD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:51732618
Cytoband: 6p12.2
HGVS: NM_138694.4(PKHD1):c.7733+43G>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease

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.