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: rs1060499583
rs1060499583
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		C 0.700 GeneticVariation CLINVAR
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: 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: 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: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation 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 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
dbSNP: rs886039915
rs886039915
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
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 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016