Gene: CHD7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434345
rs121434345
CHD7
0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs121434345
rs121434345
CHD7
0.800 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs121434345
rs121434345
CHD7
0.800 GeneticVariation UNIPROT Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967

2008
dbSNP: rs121434345
rs121434345
CHD7
G 0.800 CausalMutation CLINVAR

dbSNP: rs794727423
rs794727423
CHD7
A 0.700 CausalMutation CLINVAR Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 26538304

2016
dbSNP: rs121434343
rs121434343
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs121434344
rs121434344
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs1467824778
rs1467824778
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs1554602465
rs1554602465
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs200806228
rs200806228
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs587783435
rs587783435
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs759918327
rs759918327
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs772260091
rs772260091
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs886041167
rs886041167
CHD7
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs398124321
rs398124321
CHD7
A 0.700 CausalMutation CLINVAR Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 22033296

2012
dbSNP: rs398124321
rs398124321
CHD7
A 0.700 CausalMutation CLINVAR CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733

2011
dbSNP: rs121434343
rs121434343
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs121434344
rs121434344
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs1467824778
rs1467824778
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs1554602465
rs1554602465
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs200806228
rs200806228
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs587783435
rs587783435
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs759918327
rs759918327
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs772260091
rs772260091
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs886041167
rs886041167
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010