Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834099
rs386834099
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 CausalMutation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004
dbSNP: rs386834099
rs386834099
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR