Variant (rsID / SNP)
rs1048709
rs1048709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,914,935. Clinical significance in the table: Benign.
Reference-table entries
C2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:31914935
- Cytoband
- 6p21.33
- HGVS
- NM_001710.6(CFB):c.450A>G (p.Arg150=)
- Allele change
- Synonymous_R150R
Associated conditions / phenotypes
Complement component 2 deficiency|Atypical hemolytic-uremic syndrome with B factor anomaly|Macular degeneration|Complement factor b deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.