Variant (rsID / SNP)

rs1800379

rs1800379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,167,196. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

VWFBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:6167196
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
Allele change: Synonymous_Y516Y

Associated conditions / phenotypes

von Willebrand disorder|von Willebrand disease type 1|von Willebrand disease type 2|von Willebrand disease type 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.