rs1555743003, ASXL3

N. diseases: 58
Disease: Cupped ears (finding) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016