Variant (rsID / SNP)

rs2246841

rs2246841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,602,666. 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: 9:107602666
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.948G>A (p.Gly316=)
Allele change: Synonymous_G316G

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.