Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 CausalMutation CLINVAR Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. 20656880

2010
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 CausalMutation CLINVAR High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 20461111

2010
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 GeneticVariation CLINVAR Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. 20656880

2010
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 CausalMutation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs386834080
rs386834080
VPS13B
T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007