rs201992075
|
CHD4;SCARNA11
|
SIFRIM-HITZ-WEISS SYNDROME
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs201992075
|
CHD4;SCARNA11
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039915
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886039915
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039916
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039916
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886039917
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039917
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886039918
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886039918
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039919
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039919
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
SIFRIM-HITZ-WEISS SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1639122
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs7308584
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Red cell distribution width determination
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs7308584
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
RDW - Red blood cell distribution width result
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
rs886039915
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
rs886039915
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
|
27479907 |
2016 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
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 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.
|
25849321 |
2016 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Chromatin remodeling inactivates activity genes and regulates neural coding.
|
27418512 |
2016 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
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 |
rs1377989582
|
Entrez Id: |
1108 |
Gene Symbol: |
CHD4 |
CHD4
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Chromatin remodeling inactivates activity genes and regulates neural coding.
|
27418512 |
2016 |