Variant (rsID / SNP)

rs2227580

rs2227580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLAU. Location: chromosome 10, position 75,671,356. Clinical significance in the table: Benign.

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Reference-table entries

PLAUBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:75671356
Cytoband: 10q22.2
HGVS: NM_002658.6(PLAU):c.43G>T (p.Val15Leu)
Allele change: Silent

Associated conditions / phenotypes

Quebec platelet disorder

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.