rs1140239

This variant is located in the DOC2A gene.

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GWAS Catalog Trait Associations (1)

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 T
OR 0.94
p 3.0e-13
N 487,511
Large GWAS
European
Lake J et al. “Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.” Molecular Psychiatry 28(7):3121-3132 (2023)
Allele T
OR —
p 2.0e-11
N 644,188
Meta-analysisLarge GWAS
multi-ancestry
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 T
OR 0.94
p 2.0e-12
N 488,904
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About DOC2A

There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

View all DOC2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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