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Variant (rsID / SNP)

rs76505074

VWF

rs76505074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,219,681. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VWFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:6219681
Cytoband
12p13.31
HGVS
NM_000552.5(VWF):c.391G>A (p.Gly131Ser)
Allele change
Missense_G131S

Associated conditions / phenotypes

von Willebrand disorder|von Willebrand disease type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.