Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039916
rs886039916
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039916
rs886039916
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs886039917
rs886039917
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039917
rs886039917
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs886039918
rs886039918
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs886039918
rs886039918
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039919
rs886039919
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs886039919
rs886039919
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME
A 0.800 CausalMutation CLINVAR
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