Variant (rsID / SNP)

rs9332739

rs9332739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2. Location: chromosome 6, position 31,903,804. 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: 6:31903804
Cytoband: 6p21.33
HGVS: NM_000063.6(C2):c.954G>C (p.Glu318Asp)
Allele change: Missense_E72D

Associated conditions / phenotypes

Age related macular degeneration 14|Complement component 2 deficiency

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.