Variant (rsID / SNP)

rs2230808

rs2230808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,562,804. 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: 9:107562804
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg)
Allele change: Missense_K1587R

Associated conditions / phenotypes

Hypoalphalipoproteinemia, primary, 1|Tangier disease

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.