Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795104
rs1064795104
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

dbSNP: rs1064795104
rs1064795104
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013