rs104893941

This is a variant in the SQSTM1 gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (1)

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

osteitis deformans

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.23
p 1.0e-21
N 449,921
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
16 submitters67 publications

Amyotrophic lateral sclerosis (ALS); Bone Paget disease; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Paget disease of bone 2, early-onset (PDB2); Paget disease of bone 3; Spastic paraplegia-Paget disease of bone syndrome

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About SQSTM1

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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