Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 15154116

2004
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Cohen syndrome in the Ohio Amish. 15211651

2004
dbSNP: rs386834104
rs386834104
VPS13B
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 GeneticVariation UNIPROT Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. 12730828

2003