Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045041
rs797045041
DYRK1A
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		A 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016