rs12608932

This variant is located in the UNC13A gene.

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GWAS Catalog Trait Associations (2)

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

frontotemporal dementia

Chen K et al. “Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis.” Neurobiology of Aging 134:28-39 (2024)
Allele C
OR 0.06
p 7.0e-26
N 12,928
Large GWAS
European

amyotrophic lateral sclerosis

van Rheenen W et al. “Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.” Nature Genetics 53(12):1636-1648 (2021)
Allele C
OR 0.12
p 3.0e-25
N 152,268
Large GWAS
multi-ancestry
Diekstra FP et al. “C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.” Annals of Neurology 76(1):120-33 (2014)
Allele C
OR 1.18
p 2.0e-8
N 17,394
Meta-analysisLarge GWAS
European
Ahmeti KB et al. “Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.” Neurobiology of Aging 34(1):357.e7-19 (2013)
Allele C
OR 1.37
p 5.0e-8
N 9,355
Large GWAS
European
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Research that mentions this SNP (1)

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Analysis of the UNC13A Gene as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis
ReviewHussein Daoud et al.(2010)· Archives of Neurology

This review article summarizes recent advances in amyotrophic lateral sclerosis (ALS) research, covering molecular genetics, environmental factors, phenotypic heterogeneity, prognostic factors, diagnostic challenges, neuroimaging, and clinical management. Key genetic findings include mutations in SOD1, TARDBP, FUS, MATR3, C9orf72 (the most common cause accounting for >1/3 of familial ALS and ~7% of sporadic cases), TBK1, CHCHD10, PFN1, and TUBA4A genes. The paper identifies UNC13A rs12608932 as a risk factor for ALS and a modifier of disease progression in Spanish and Italian populations.

Traits studied:Amyotrophic lateral sclerosisFrontotemporal dementiaHereditary spastic paraplegiaMotor neuron diseasePrimary lateral sclerosisProgressive muscular atrophy
PubMedDOIMetascience Observatory

About UNC13A

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]

View all UNC13A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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