Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124321
rs398124321
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		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: rs398124321
rs398124321
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		A 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
dbSNP: rs398124321
rs398124321
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		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
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		A 0.700 CausalMutation CLINVAR CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733

2011
dbSNP: rs398124321
rs398124321
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		A 0.700 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
dbSNP: rs398124321
rs398124321
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004