ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Disease: Thin lips ×
Source: CLINVAR ×
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: C0578038
Disease:
Thin lips 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016