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Variant (rsID / SNP)

rs6030

F5

rs6030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,498,975. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:169498975
Cytoband
1q24.2
HGVS
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
Allele change
Missense_M1764V

Associated conditions / phenotypes

Thrombophilia due to activated protein C resistance

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.