Gene: CHD7 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434341
rs121434341
CHD7
A 0.810 CausalMutation CLINVAR

dbSNP: rs121434341
rs121434341
CHD7
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434338
rs121434338
CHD7
G 0.800 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs121434338
rs121434338
CHD7
G 0.800 CausalMutation CLINVAR Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 20884005

2011
dbSNP: rs121434338
rs121434338
CHD7
G 0.800 CausalMutation CLINVAR Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. 18073582

2007
dbSNP: rs121434338
rs121434338
CHD7
G 0.800 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
dbSNP: rs121434338
rs121434338
CHD7
G 0.800 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs121434339
rs121434339
CHD7
G 0.800 CausalMutation CLINVAR

dbSNP: rs121434343
rs121434343
CHD7
A 0.800 CausalMutation CLINVAR

dbSNP: rs587783451
rs587783451
CHD7
G 0.800 GeneticVariation CLINVAR

dbSNP: rs864309609
rs864309609
CHD7
C 0.800 CausalMutation CLINVAR

dbSNP: rs886040988
rs886040988
CHD7
A 0.800 GeneticVariation CLINVAR

dbSNP: rs1060503188
rs1060503188
CHD7
G 0.700 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794

2019
dbSNP: rs398124321
rs398124321
CHD7
A 0.700 CausalMutation CLINVAR CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. 29255276

2018
dbSNP: rs587783458
rs587783458
CHD7
T 0.700 CausalMutation CLINVAR Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. 26663670

2016
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: rs886040995
rs886040995
CHD7
T 0.700 CausalMutation CLINVAR Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. 27061523

2016
dbSNP: rs794727423
rs794727423
CHD7
A 0.700 CausalMutation CLINVAR Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. 26544072

2015
dbSNP: rs1554606274
rs1554606274
CHD7
T 0.700 GeneticVariation CLINVAR The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs864622523
rs864622523
CHD7
C 0.700 CausalMutation CLINVAR The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs1554606274
rs1554606274
CHD7
T 0.700 GeneticVariation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
dbSNP: rs1563559321
rs1563559321
CHD7
C 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
dbSNP: rs1563560493
rs1563560493
CHD7
G 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
dbSNP: rs398124321
rs398124321
CHD7
A 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
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