Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074154
rs120074154
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 15154116

2004
dbSNP: rs120074154
rs120074154
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 CausalMutation CLINVAR