Variant (rsID / SNP)

rs78302129

rs78302129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,125,820. Clinical significance in the table: Benign.

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Reference-table entries

VWFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:6125820
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)
Allele change: Missense_P1725S

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.