ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Metopic synostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1860819
Disease:
Metopic synostosis 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016