Variant (rsID / SNP)

rs2230806

rs2230806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,620,867. Clinical significance in the table: Benign.

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Reference-table entries

ABCA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:107620867
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys)
Allele change: Missense_R219K

Associated conditions / phenotypes

Coronary heart disease in familial hypercholesterolemia, protection against|Tangier disease|Hypoalphalipoproteinemia, primary, 1

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.