ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Alpha-Thalassemia Myelodysplasia Syndrome ×
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: rs122445105
rs122445105 		0.882 0.240 X 77684520 missense variant G/A snv
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs122445107
rs122445107 		1.000 0.080 X 77697589 stop gained G/C snv
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776756
rs587776756 		1.000 0.080 X 77785981 splice donor variant C/T snv
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0