Variant (rsID / SNP)

rs138422574

rs138422574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,560,803. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:107560803
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.5020G>A (p.Val1674Ile)
Allele change: Missense_V1674I

Associated conditions / phenotypes

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.