Variant (rsID / SNP)

rs2245056

rs2245056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HABP2. Location: chromosome 10, position 115,341,753. Clinical significance in the table: Benign.

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Reference-table entries

HABP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:115341753
Cytoband: 10q25.3
HGVS: NM_004132.5(HABP2):c.957G>A (p.Lys319=)
Allele change: Synonymous_K293K

Associated conditions / phenotypes

Factor VII Marburg I Variant Thrombophilia

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.