Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. 22462537 2013
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 21554267 2012
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: CHARGE syndrome. 21407266 2011
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733 2011
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. 20453063 2010
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681 2010
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 19021638 2009
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. 18445044 2008
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		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
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 18074359 2008
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT CHD7 gene and non-syndromic cleft lip and palate. 16763960 2006
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610 2006
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.810 GeneticVariation UNIPROT Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250 2004
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121434338
rs121434338
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs121434339
rs121434339
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs121434343
rs121434343
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs587783451
rs587783451
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs864309609
rs864309609
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs886040988
rs886040988
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs121434338
rs121434338
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		G 0.800 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014