SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72807343
rs72807343
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.800 GeneticVariation GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
dbSNP: rs72807343
rs72807343
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.800 GeneticVariation GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
dbSNP: rs10516140
rs10516140
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10516140
rs10516140
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1225746517
rs1225746517
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs1225746517
rs1225746517
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs1225746517
rs1225746517
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs1225746517
rs1225746517
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
dbSNP: rs140226523
rs140226523
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs140226523
rs140226523
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs140226523
rs140226523
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs140226523
rs140226523
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
dbSNP: rs143956614
rs143956614
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
dbSNP: rs143956614
rs143956614
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs143956614
rs143956614
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs143956614
rs143956614
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs145056421
rs145056421
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs145056421
rs145056421
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs145056421
rs145056421
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs145056421
rs145056421
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011