Variant (rsID / SNP)

rs540796

rs540796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,524,197. Clinical significance in the table: Benign.

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Reference-table entries

PCSK9Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:55524197
Cytoband: 1p32.3
HGVS: NM_174936.4(PCSK9):c.1380A>G (p.Val460_Trp461=)
Allele change: Synonymous_V460V

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3

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.