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: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		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: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		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: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		A 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004