EXOC6B, exocyst complex component 6B, 23233

N. diseases: 63; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1827524
Disease:
Wide spaced nipples
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
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1827524
Disease:
Wide spaced nipples
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