rs200538373

badMag 3.5

This is a frameshift variant variant in the ABCA7 gene.

Key Literature Trait Associations

Alzheimer's Disease

rs200538373 is a frameshift deletion (p.Glu709fs) in ABCA7 that introduces a premature stop codon, leading to loss of function of the ABCA7 lipid transporter. ABCA7 plays a critical role in amyloid-beta clearance via phagocytosis and lipid homeostasis in the brain. This variant is substantially more common in individuals of African ancestry and contributes disproportionately to Alzheimer's disease risk in African American populations.

“Systematic review and meta-analysis of the association between ABCA7 common variants and Alzheimer's disease in non-Hispanic White and Asian cohorts”

Allele C

OR —

p —

N 76,803

Meta-analysis

multi-ancestry

Udell JA et al. “Association between influenza vaccination and cardiovascular outcomes in high-risk patients: a meta-analysis.” Jama 310(16):1711 (2013)

Allele C

OR 1.79

p 2.2e-9

Large GWAS

Vasquez JB et al. “Alzheimer's Disease Genetics and ABCA7 Splicing.” Journal of Alzheimer's Disease : Jad (2017)

Allele C

OR 1.90

p —

Candidate gene study

European

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ClinVar annotation

Uncertain Significance★☆☆☆

5 submitters

ABCA7-related disorder; Alzheimer disease 9; not specified

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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