Variant (rsID / SNP)

rs137854496

rs137854496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,593,329. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:107593329
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser)
Allele change: Missense_W590S

Associated conditions / phenotypes

Tangier disease|ABCA1-Related Disorders

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.