Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518789
rs1057518789
CREBBP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs199821421
rs199821421
CREBBP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR