rs386834066, VPS13B

N. diseases: 1
Disease: Cohen syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 CausalMutation CLINVAR Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. 23188044 2013
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. 23188044 2013
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 CausalMutation CLINVAR High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 20461111 2010
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 20461111 2010