Variant (rsID / SNP)

rs57950734

rs57950734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,145,649. 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: 12:6145649
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.2451T>A (p.His817Gln)
Allele change: Missense_H817Q

Associated conditions / phenotypes

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