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

2016