Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834078
rs386834078
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR Using whole-exome sequencing to identify inherited causes of autism. 23352163

2013
dbSNP: rs386834078
rs386834078
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		A 0.700 GeneticVariation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004