Variant (rsID / SNP)

rs4151669

rs4151669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,915,144. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

C2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:31915144
Cytoband: 6p21.33
HGVS: NM_001710.6(CFB):c.504G>A (p.Pro168=)
Allele change: Synonymous_P168P

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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