Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554566596
rs1554566596
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: rs1554566596
rs1554566596
VPS13B
T 0.700 CausalMutation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs1554566596
rs1554566596
VPS13B
T 0.700 CausalMutation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004
dbSNP: rs1554566596
rs1554566596
VPS13B
T 0.700 GeneticVariation CLINVAR