Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765998879
rs765998879
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009