Variant (rsID / SNP)

rs12614

rs12614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,914,179. Clinical significance in the table: Benign.

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Reference-table entries

C2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:31914179
Cytoband: 6p21.33
HGVS: NM_001710.5(CFB):c.94C>T (p.Arg32Trp)
Allele change: Missense_R32W

Associated conditions / phenotypes

Factor B fast/slow polymorphism|Atypical hemolytic-uremic syndrome|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.