Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017