Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs386834061
rs386834061
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs386834061
rs386834061
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