Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015