Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1247027543
rs1247027543
DLL4
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018