Variant (rsID / SNP)

rs104894540

rs104894540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VKORC1. Location: chromosome 16, position 31,105,917. Clinical significance in the table: Pathogenic.

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Reference-table entries

VKORC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:31105917
Cytoband: 16p11.2
HGVS: NM_024006.6(VKORC1):c.134T>C (p.Val45Ala)
Allele change: Missense_V45A

Associated conditions / phenotypes

Warfarin response

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.