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

2004
dbSNP: rs120074154
rs120074154
VPS13B
T 0.700 CausalMutation CLINVAR