Variant (rsID / SNP)

rs2230199

rs2230199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,718,387. Clinical significance in the table: Benign.

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Reference-table entries

C3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:6718387
Cytoband: 19p13.3
HGVS: NM_000064.4(C3):c.304C>G (p.Arg102Gly)
Allele change: Missense_R102G

Associated conditions / phenotypes

MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO|C3S/C3F POLYMORPHISM|Age related macular degeneration 9

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.