Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. 24139496

2014
dbSNP: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. 21755595

2012