ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474698
rs199474698
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.010 GeneticVariation BEFREE ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). 22089611 2011