rs1057516033, KAT6B

N. diseases: 9
Disease: Young Simpson syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Young Simpson syndrome
CUI: C1863557
Disease: Young Simpson syndrome
0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016