Variant (rsID / SNP)
rs4151659
rs4151659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFB. Location: chromosome 6, position 31,918,464. Clinical significance in the table: Benign.
Reference-table entries
CFBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:31918464
- Cytoband
- 6p21.33
- HGVS
- NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)
- Allele change
- Missense_K565E
Associated conditions / phenotypes
Atypical hemolytic-uremic syndrome with B factor anomaly|Macular degeneration
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
