rs12973192
This is a intron variant variant in the UNC13A gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Pottier C et al. “Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.” Nature Communications 16(1):3914 (2025)
Allele C
OR 1.74
p 9.0e-10
N 3,441
Large GWAS
European
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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