Variant (rsID / SNP)

rs61753991

rs61753991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,219,687. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VWFUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:6219687
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.385C>A (p.Leu129Met)
Allele change: Missense_L129M

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.