Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780441716
rs780441716
DYRK1A ; LOC105372797
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047

2017