Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121482368 T>G
Position: (GRCh37/hg19):Chr11:121353077 T>G
dbSNP ID: rs74685827
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 3

Findings

In a genome-wide association study including 64,498 clinically diagnosed Alzheimer’s cases, 46,828 “proxy-AD” cases (individuals who reported a parent with dementia), and 677,663 controls from several European datasets, this intronic variant was found to associate with an increased risk of disease (odds ratio: 1.19; 95% confidence interval: 1.13-1.25; p = 2.8´10-11) (Bellenguez et al., 2022).

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References

Paper Citations

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Further Reading

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