Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065344
rs796065344
DLL4
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		T 0.700 CausalMutation CLINVAR Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 26299364

2015