rs113809142

neutralMag 1.5

This is a splice donor variant variant in the ABCA7 gene.

Key Literature Trait Associations

Alzheimer's Disease

This splice donor variant (c.4416+2T>G) in ABCA7 disrupts a canonical splice site, leading to loss of function of the ABCA7 lipid transporter. In the Icelandic population, carriers showed a strongly elevated Alzheimer's disease risk (OR = 4.42). Across all ABCA7 loss-of-function variants combined, the association replicated in European and American cohorts with a combined OR of 2.03 (P = 6.8 × 10⁻¹⁵). ABCA7 facilitates phagocytic clearance of amyloid-beta by microglia and macrophages.

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

Allele G

OR —

p —

N 76,803

Meta-analysis

European, Asian

Steinberg S et al. “Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.” Nature Genetics 47(5):445-447 (2015)

Allele G

OR 4.42

p 2.2e-13

Large GWAS

“ABCA7 loss-of-function variants, expression, and neurologic disease risk”

Allele G

OR —

p 5.0e-4

N 2,889

Preliminary work

European

“Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants”

Allele G

OR 4.94

p 7.0e-2

N 1,215

Preliminary work

multi-ancestry

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ClinVar annotation

Uncertain Significance★☆☆☆

2 submitters

not provided; Cholangiocarcinoma

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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