rs1567574291, ANKRD11

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
0.700 CausalMutation CLINVAR Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. 27605097 2016