DisGeNET - a database of gene-disease associations

SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, 6597

N. diseases: 347; N. variants: 73

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

BEFREE

Association of rs1122608 with Coronary Artery Disease and Lipid Profile: A Meta-analysis.

27664493

2016

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

GWASCAT

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

24262325

2014

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

BEFREE

To explore the association of rs11206510 (PCSK9 gene) and rs1122608 (LDLR gene) polymorphisms with coronary heart disease (CHD) in Han Chinese.

23380588

2013

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

GWASDB

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

21378990

2011

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

GWASCAT

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

21378990

2011

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0010068
Disease:

Coronary heart disease

0.820

GeneticVariation

GWASDB

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

21347282

2011

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0027051
Disease:

Myocardial Infarction

0.810

GeneticVariation

BEFREE

We also found three SNPs rs1122608, rs3798220 and rs579459 were significantly associated with risk factors of MI, although they had no association with MI in Chinese population.

24475106

2014

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0027051
Disease:

Myocardial Infarction

0.810

GeneticVariation

GWASDB

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

19198609

2009

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0027051
Disease:

Myocardial Infarction

0.810

GeneticVariation

GWASCAT

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

19198609

2009

dbSNP:

rs281875226

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs281875227

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs281875228

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs281875229

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs281875230

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs55791371

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0523744
Disease:

Lipids measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs55791371

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0523744
Disease:

Lipids measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs281875226

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875227

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875228

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875229

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875230

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C3553249
Disease:

COFFIN-SIRIS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C1956346
Disease:

Coronary Artery Disease

0.720

GeneticVariation

BEFREE

The rs1122608 is associated with the risk of CAD and TG level.

27664493

2016

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C1956346
Disease:

Coronary Artery Disease

0.720

GeneticVariation

BEFREE

A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene was previously associated with coronary artery disease (CAD).

24190014

2014

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C1956346
Disease:

Coronary Artery Disease

0.720

GeneticVariation

GWASDB

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

24262325

2014

dbSNP:

rs1122608

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

CUI:	C0038454
Disease:

Cerebrovascular accident

0.710

GeneticVariation

GWASCAT

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

24262325

2014