rs3849942

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (1)

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

amyotrophic lateral sclerosis

Laaksovirta H et al. “Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.” The Lancet. Neurology 9(10):978-85 (2010)
Allele A
OR 2.16
p 9.0e-11
N 902
Small GWAS
European
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Research that mentions this SNP (1)

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Distinct clinicopathologic clusters of persons with TDP-43 proteinopathy
AssociationN=495Yuriko Katsumata et al.(2020)· Acta Neuropathologica

Clustering analysis of 495 autopsied NACC subjects with TDP-43 proteinopathy identified four distinct neuropathologic and clinicopathologic groups differing by age at death and Alzheimer's disease neuropathologic changes severity. Genetic analysis of 114 subjects examined five TDP-43 disease risk SNPs, finding a suggestive trend for C9orf72 rs3849942 T allele association with earlier disease onset cluster (p=0.095).

Traits studied:Alzheimer's disease neuropathologic changes (ADNC)Amyotrophic lateral sclerosis (ALS)Cognitive declineFrontotemporal lobar degeneration (FTLD-TDP)Hippocampal sclerosisLimbic-predominant age-related TDP-43 encephalopathy (LATE-NC)Primary progressive aphasia (PPA)TDP-43 proteinopathy
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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