rs11218343

This variant is located in the SORL1 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Alzheimer disease

Bellenguez C et al. “New insights into the genetic etiology of Alzheimer's disease and related dementias.” Nature Genetics 54(4):412-436 (2022)
Allele C
OR 0.84
p 1.0e-21
N 487,511
Large GWAS
European
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele C
OR 0.04
p 1.0e-11
N 640,258
Large GWAS
European
Dalmasso MC et al. “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele C
OR 0.85
p 1.0e-14
N 488,904
Large GWAS
multi-ancestry
Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele C
OR 6.55
p 6.0e-11
N 79,145
Meta-analysisLarge GWAS
European
Lambert JC et al. “Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.” Nature Genetics 45(12):1452-8 (2013)
Allele C
OR 1.30
p 1.0e-14
N 54,162
Meta-analysisLarge GWAS
European

Alzheimer disease, family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele C
OR 6.79
p 1.0e-11
N 455,258
Meta-analysisLarge GWAS
European

Alzheimer's disease biomarker measurement

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele C
OR 0.03
p 2.0e-9
N 568,836
Large GWAS
European

About SORL1

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

View all SORL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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