RS104893941 SQSTM1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Spastic paraplegia-Paget disease of bone syndrome
Paget disease of bone 2
early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Amyotrophic lateral sclerosis
Bone Paget disease
SQSTM1-related multisystem proteinopathy
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Spastic paraplegia-Paget disease of bone syndrome
Paget disease of bone 2
early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
GWAS Studies (4)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Osteitis deformans [Paget's disease of bone] (PheCode 731.1) | C | OR: 3.27 | 2E-68 | PubMed |
| Osteitis deformans and osteopathies associated with other disorders classified elsewhere (PheCode 731) | C | OR: 2.2 | 2E-35 | PubMed |
| Osteitis deformans [Paget's disease of bone] (PheCode 731.1) | C | OR: 3.28 | 6E-33 | PubMed |
| Osteitis deformans and osteopathies associated with other disorders classified elsewhere (PheCode 731) | C | OR: 2.23 | 1E-21 | PubMed |
ClinVar Assertions (1)
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
99.8%
1kG AMR
99%
1kG EAS
100%
1kG EUR
0.5%
1kG SAS
100%
Other Variants in SQSTM1