ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: alpha-Thalassemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122445108
rs122445108
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0002312
Disease:
alpha-Thalassemia 		0.010 GeneticVariation BEFREE Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24805811 2015