Variant (rsID / SNP)

rs652785

rs652785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C8A. Location: chromosome 1, position 57,340,727. Clinical significance in the table: Benign.

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Reference-table entries

C8ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:57340727
Cytoband: 1p32.2
HGVS: NM_000562.3(C8A):c.277C>A (p.Gln93Lys)
Allele change: Missense_Q93K

Associated conditions / phenotypes

COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM

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.