Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834067
rs386834067
VPS13B
AGAA 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: rs386834067
rs386834067
VPS13B
AGAA 0.700 CausalMutation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs386834067
rs386834067
VPS13B
AGAA 0.700 GeneticVariation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs386834067
rs386834067
VPS13B
AA 0.700 GeneticVariation CLINVAR