Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		T 0.700 CausalMutation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017