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Variant (rsID / SNP)

rs45484591

CFB

rs45484591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFB. Location: chromosome 6, position 31,918,468. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CFBBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:31918468
Cytoband
6p21.33
HGVS
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)
Allele change
Missense_E566A

Associated conditions / phenotypes

Macular degeneration|Complement factor b deficiency|Atypical hemolytic-uremic syndrome with B factor anomaly|Complement component 2 deficiency

Public references

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