Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553417206
rs1553417206
EXOC6B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664

2016