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: rs1569535642
rs1569535642
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		T 0.700 CausalMutation CLINVAR Functional significance of mutations in the Snf2 domain of ATRX. 21505078 2011
dbSNP: rs1569535642
rs1569535642
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		T 0.700 CausalMutation CLINVAR ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. 8968741 1996