Variant (rsID / SNP)

rs7200749

rs7200749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VKORC1. Location: chromosome 16, position 31,102,589. Clinical significance in the table: Benign.

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Reference-table entries

VKORC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:31102589
Cytoband: 16p11.2
HGVS: NM_024006.6(VKORC1):c.358C>T (p.Leu120=)
Allele change: Synonymous_L148L

Associated conditions / phenotypes

Vitamin K-dependent clotting factors, combined deficiency of, type 2

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.