Variant (rsID / SNP)

rs6090

rs6090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINE1. Location: chromosome 7, position 100,771,723. Clinical significance in the table: Benign.

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Reference-table entries

SERPINE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:100771723
Cytoband: 7q22.1
HGVS: NM_000602.5(SERPINE1):c.49G>A (p.Val17Ile)
Allele change: Missense_V17I

Associated conditions / phenotypes

Congenital plasminogen activator inhibitor type 1 deficiency

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.