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rs115550680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 2 Increased risk (~1.8x) of Alzheimer's, observed for African-Americans
(G;G) 2.5 Increased risk (~2.2x?) of Alzheimer's, observed for African-Americans
ReferenceGRCh38 38.1/141
Chromosome19
Position1050421
GeneABCA7
is asnp
is mentioned by
dbSNPrs115550680
ClinGenrs115550680
ebirs115550680
HLIrs115550680
Exacrs115550680
Varsomers115550680
Maprs115550680
PheGenIrs115550680
hapmaprs115550680
1000 genomesrs115550680
hgdprs115550680
ensemblrs115550680
gopubmedrs115550680
geneviewrs115550680
scholarrs115550680
googlers115550680
pharmgkbrs115550680
gwascentralrs115550680
openSNPrs115550680
23andMers115550680
23andMe allrs115550680
SNP Nexus

SNPshotrs115550680
SNPdbers115550680
MSV3drs115550680
GWAS Ctlgrs115550680
GMAF0.01837
Max Magnitude2.5

A 2013 meta-analysis comprising a total of ~2,000 African-Americans with late-onset Alzheimer's disease found that rs115550680(G) was associated with higher risk for the disorder in this population (OR 1.79, CI: 1.47-2.12, p = 2.2 × 10e-9). This SNP was is in (80-90%) linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans.[PMID 23571587OA-icon.png]

In 2016, a publication reported that a 44-base pair deletion (rs142076058) co-segregated with both Alzheimer's and rs115550680(G).This deletion is common in African-American Alzheimer cases (15.2%) and controls (9.74%), but is rare (0.12%) in a non-Hispanic white cohort. The deleted allele could result in defective protein function and be an ethnic-specific pathogenic alteration.[PMID 27231719OA-icon.png]