ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: alpha-Thalassemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015