Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044522
rs797044522
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0557874
Disease:
Global developmental delay
G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015