Variant (rsID / SNP)

rs55744193

rs55744193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLAU. Location: chromosome 10, position 75,672,059. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLAUBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:75672059
Cytoband: 10q22.2
HGVS: NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
Allele change: Silent

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 1|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.