Gene: CHD7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1165711448
rs1165711448
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs1197494895
rs1197494895
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs1554602465
rs1554602465
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs200806228
rs200806228
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs200898742
rs200898742
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs201083157
rs201083157
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs201319489
rs201319489
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs201423234
rs201423234
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs370194460
rs370194460
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs370231679
rs370231679
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs373301291
rs373301291
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs541818422
rs541818422
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs547209998
rs547209998
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs756365280
rs756365280
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs756851968
rs756851968
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs763978472
rs763978472
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs768481542
rs768481542
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs773187713
rs773187713
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs779024959
rs779024959
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015