Variant (rsID / SNP)
rs1800386
rs1800386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,127,833. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.
Reference-table entries
VWFConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6127833
- Cytoband
- 12p13.31
- HGVS
- NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
- Allele change
- Missense_Y1584C
Associated conditions / phenotypes
von Willebrand disease, type 1, susceptibility to|Inborn genetic diseases|von Willebrand disorder|von Willebrand disease type 2|von Willebrand disease type 1|Thrombus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.