rs122445108, ATRX

N. diseases: 7
Disease: alpha^+^ Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
alpha^+^ Thalassemia
CUI: C1456873
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