Variant (rsID / SNP)

rs3136516

rs3136516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F2. Location: chromosome 11, position 46,760,756. Clinical significance in the table: Benign.

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Reference-table entries

F2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:46760756
Cytoband: 11p11.2
HGVS: NM_000506.5(F2):c.1726-59G>A
Allele change: Silent

Associated conditions / phenotypes

Thrombophilia due to thrombin defect

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.