Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1479675678
rs1479675678
DOCK7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191

2014
dbSNP: rs1479675678
rs1479675678
DOCK7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18. 16982419

2006