Variant (rsID / SNP)

rs34882957

rs34882957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C9. Location: chromosome 5, position 39,331,894. Clinical significance in the table: Likely benign.

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Reference-table entries

C9Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:39331894
Cytoband: 5p13.1
HGVS: NM_001737.5(C9):c.499C>T (p.Pro167Ser)
Allele change: Missense_P167S

Associated conditions / phenotypes

Age related macular degeneration 15

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.