rs386834061, VPS13B

N. diseases: 10
Disease: Cohen syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063 2007
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 15154116 2004