Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The p.D140E was associated with the presence of cancer (adjusted odds ratio [OR], 2.17; 95% confidence interval [CI], 1.37-3.44, P = 0.001), but not p.E139D. 25407497 2015
dbSNP: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE The p.D140E was associated with the presence of cancer (adjusted odds ratio [OR], 2.17; 95% confidence interval [CI], 1.37-3.44, P = 0.001), but not p.E139D. 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE For individual cancer types, p.D140E was associated with lung cancer (adjusted OR, 3.99; 95% CI, 2.07-7.67; P < 0.001), malignant lymphoma (adjusted OR, 3.24; 95% CI, 1.43-7.33; P = 0.005), and rectum cancer (adjusted OR, 6.23; 95% CI, 2.31-16.8; P < 0.001). 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE For individual cancer types, p.D140E was associated with lung cancer (adjusted OR, 3.99; 95% CI, 2.07-7.67; P < 0.001), malignant lymphoma (adjusted OR, 3.24; 95% CI, 1.43-7.33; P = 0.005), and rectum cancer (adjusted OR, 6.23; 95% CI, 2.31-16.8; P < 0.001). 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE A nonsynonymous SNV of CHD4, p.D140E, confers a risk of cancer and may interact with smoking habit to increase the risk. 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0024299
Disease:
Lymphoma 		0.010 GeneticVariation BEFREE For individual cancer types, p.D140E was associated with lung cancer (adjusted OR, 3.99; 95% CI, 2.07-7.67; P < 0.001), malignant lymphoma (adjusted OR, 3.24; 95% CI, 1.43-7.33; P = 0.005), and rectum cancer (adjusted OR, 6.23; 95% CI, 2.31-16.8; P < 0.001). 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE A nonsynonymous SNV of CHD4, p.D140E, confers a risk of cancer and may interact with smoking habit to increase the risk. 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE For individual cancer types, p.D140E was associated with lung cancer (adjusted OR, 3.99; 95% CI, 2.07-7.67; P < 0.001), malignant lymphoma (adjusted OR, 3.24; 95% CI, 1.43-7.33; P = 0.005), and rectum cancer (adjusted OR, 6.23; 95% CI, 2.31-16.8; P < 0.001). 25407497 2015
dbSNP: rs74790047
rs74790047
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0007113
Disease:
Rectal Carcinoma 		0.010 GeneticVariation BEFREE For individual cancer types, p.D140E was associated with lung cancer (adjusted OR, 3.99; 95% CI, 2.07-7.67; P < 0.001), malignant lymphoma (adjusted OR, 3.24; 95% CI, 1.43-7.33; P = 0.005), and rectum cancer (adjusted OR, 6.23; 95% CI, 2.31-16.8; P < 0.001). 25407497 2015
dbSNP: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7308584
rs7308584
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7308584
rs7308584
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
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: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. 25849321 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. 25849321 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016