Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834069
rs386834069
COX6C ; VPS13B
C 0.700 GeneticVariation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs386834069
rs386834069
COX6C ; VPS13B
C 0.700 GeneticVariation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004