Variant (rsID / SNP)

rs36221133

rs36221133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,912,523. 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: 6:31912523
Cytoband: 6p21.33
HGVS: NM_000063.6(C2):c.1922T>C (p.Val641Ala)
Allele change: Missense_V395A

Associated conditions / phenotypes

Macular degeneration|Complement component 2 deficiency|Atypical hemolytic-uremic syndrome|Age related macular degeneration 14

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.