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Variant (rsID / SNP)

rs35819696

ABCA1

rs35819696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,589,246. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:107589246
Cytoband
9q31.1
HGVS
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
Allele change
Missense_T774P

Associated conditions / phenotypes

Hypoalphalipoproteinemia, primary, 1|Tangier disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.