Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555563871
rs1555563871
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
T 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018

dbSNP: rs1555563871
rs1555563871
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
T 0.700 CausalMutation CLINVAR Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization. 23584591

2013