Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. 22462537

2013

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 21554267

2012

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Clinical utility gene card for: CHARGE syndrome. 21407266

2011

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733

2011

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. 20453063

2010

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 19021638

2009

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. 18445044

2008

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation BEFREE The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses. 18484313

2008

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 18074359

2008

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT CHD7 gene and non-syndromic cleft lip and palate. 16763960

2006

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006

dbSNP: rs121434341
rs121434341
0.810 GeneticVariation UNIPROT Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004

dbSNP: rs121434341
rs121434341
A 0.810 CausalMutation CLINVAR

dbSNP: rs121434341
rs121434341
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434338
rs121434338
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs121434339
rs121434339
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs121434343
rs121434343
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs587783451
rs587783451
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs864309609
rs864309609
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs886040988
rs886040988
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

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

2014