Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793829
rs1064793829
GATAD2B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840

2017