Variant (rsID / SNP)

rs33918808

rs33918808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,579,632. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:107579632
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp)
Allele change: Missense_E1172D

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.