Variant (rsID / SNP)

rs117865497

rs117865497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD1. Location: chromosome 16, position 2,140,843. Clinical significance in the table: Benign.

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Reference-table entries

PKD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:2140843
Cytoband: 16p13.3
HGVS: NM_001009944.3(PKD1):c.12004-34C>A
Allele change: Silent

Associated conditions / phenotypes

Polycystic kidney disease, adult type|Autosomal dominant 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.