Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200952
rs786200952
KAT6A
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015