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Variant (rsID / SNP)

rs201798809

CFB

rs201798809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFB. Location: chromosome 6, position 31,917,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:31917333
Cytoband
6p21.33
HGVS
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
Allele change
Missense_I469M

Associated conditions / phenotypes

Macular degeneration|Atypical hemolytic-uremic syndrome with B factor anomaly

Public references

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